ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=)

gnomAD frequency: 0.00006  dbSNP: rs147886742
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 RCV000871705 SCV001013399 likely benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501312 SCV002808301 likely benign Hypercalcemia, infantile, 1 2022-03-07 criteria provided, single submitter clinical testing

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