Table 1.

Responses for questions surrounding variant classification and storage of such information; for these questions, respondents could select multiple options

Interface for viewing variants requiring evaluation/classification	No of labs
Within a bioinformatic processing system/dedicated in-house variant system	8
In a spreadsheet (eg, VCF, VCF-derived file)	5
Other	4
Within the interface from which you view variants requiring interpretation, which description is most accurate?	No of labs
Most/many of the relevant data sources have been pre-imported	1
There are variant-specific links out to most/many of the relevant data sources	7
No or minimal annotations (eg, only population frequencies). Accessing of relevant data sources (Alamut, CanVar-UK, ClinVar, literature) requires manual interrogation (variant name is typed/pasted in)	9
Storage of variant evaluation/classification (laboratories may use more than one system)	No of labs
Dedicated in-house departmental variant data system	5
Commercial platform or software (eg, Congenica, Alamut)	4
LIMS (against specific patient)	3
Individual per-variant files. File is updated on each encounter of the variant	5
Individual per-variant files. New file is generated each time the variant is encountered	4
Individual per-patient episode files. May contain multiple variants	4
Per-gene files comprising multiple variants	1
Per-disease files comprising multiple genes (and multiple variants)	1

LIMS, Laboratory Information Management System; VCF, variant call format.