ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1523_1542del (p.Leu508fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035860 SCV005667474 likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2024-05-02 criteria provided, single submitter clinical testing

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