ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.219A>G (p.Arg73=)

gnomAD frequency: 0.00003  dbSNP: rs369091846
Minimum review status: Collection method:
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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 RCV000912240 SCV001057334 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495509 SCV002803752 likely benign Vitamin D-dependent rickets type II with alopecia 2021-09-20 criteria provided, single submitter clinical testing

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