ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1390-34T>C

gnomAD frequency: 0.84626  dbSNP: rs2302431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718331 SCV001945045 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789552 SCV002031801 benign Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001718331 SCV005264836 benign not provided criteria provided, single submitter not provided

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