ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.723-13C>T

gnomAD frequency: 0.00003  dbSNP: rs372119575
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002195671 SCV002490742 likely benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2024-04-10 criteria provided, single submitter clinical testing

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