ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.537G>A (p.Ala179=)

gnomAD frequency: 0.00016  dbSNP: rs144871462
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915138 SCV001060335 benign not provided 2024-04-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000915138 SCV004153216 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CYB5R3: BP4, BP7

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