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. 2020 Aug 12;1(10):1099–1106. doi: 10.34067/KID.0004262020

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.