ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)

gnomAD frequency: 0.00001  dbSNP: rs886656814
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 RCV000934174 SCV001079892 likely benign Cholestanol storage disease 2024-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000934174 SCV001452689 uncertain significance Cholestanol storage disease 2020-01-11 no assertion criteria provided clinical testing

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