ClinVar Miner

Submissions for variant NM_004285.4(H6PD):c.741T>C (p.Ala247=)

gnomAD frequency: 0.25452  dbSNP: rs11121350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001709421 SCV001937530 benign not provided 2020-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001709421 SCV002432939 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346656 SCV004049311 benign Cortisone reductase deficiency 1 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709421 SCV005287984 benign not provided criteria provided, single submitter not provided

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