ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.378G>A (p.Pro126=)

gnomAD frequency: 0.00062  dbSNP: rs116104487
Minimum review status: Collection method:
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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 RCV000877946 SCV001020767 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507542 SCV002813101 likely benign Hypercalcemia, infantile, 1 2022-04-20 criteria provided, single submitter clinical testing

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