ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.753G>A (p.Arg251=)

gnomAD frequency: 0.00011  dbSNP: rs377533549
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936657 SCV001082428 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502867 SCV002807464 likely benign Hypercalcemia, infantile, 1 2021-08-05 criteria provided, single submitter clinical testing

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