ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys)

gnomAD frequency: 0.00065  dbSNP: rs115260488
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001395320 SCV001597027 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504662 SCV002811820 likely benign Hypercalcemia, infantile, 1 2021-07-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001395320 SCV005209974 likely benign not provided criteria provided, single submitter not provided

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