ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1482G>A (p.Leu494=)

dbSNP: rs370326231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003517289 SCV001085360 likely benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2023-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000939515 SCV004162314 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing POR: PM2:Supporting, BP4, BP7

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