ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1589A>G (p.Tyr530Cys)

dbSNP: rs1557281265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507038 SCV000603516 pathogenic not specified 2016-10-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791504 SCV005413476 likely pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing PP3, PM1, PM2_moderate, PS4_moderate

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