ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.439C>T (p.Leu147=)

gnomAD frequency: 0.00003  dbSNP: rs774042537
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000940199 SCV001086058 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489262 SCV002797930 likely benign Hypercalcemia, infantile, 1 2021-09-08 criteria provided, single submitter clinical testing

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