ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.1015G>A (p.Val339Ile)

gnomAD frequency: 0.00113  dbSNP: rs141329158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447084 SCV001650143 likely benign not provided 2024-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946167 SCV004758410 likely benign VDR-related disorder 2022-04-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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