Table 2.
Summary of patients with inconclusive results (n=3)
Patient | Family History | Cost to Patient, $ | Gene | Transcript | Genomic Coordinates (GRCh37) | Zygosity | DNA Change | Protein Change | Classification |
10 | Multiple | 0 | CACNA1D | NM_000720.2 | 3:53762060 | HET | c.3914C>T | p.A1305V | VUS |
11 | Yes | 0 | CYP24A1 | NM_000782.4 | 20:52790103 | HET | c.18_21dupCAAG | p.S8QfsX99 | Likely Pathogenic |
12 | Yes | 300 | NPHS2 | NM_014625.3 | 1:179526214 | HET | c.686G>A | p.R229Q | VUS |
Cost is in US dollars. HET, heterozygous; VUS, Variant of uncertain significance.