ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5430T>G (p.Ser1810=)

gnomAD frequency: 0.00050  dbSNP: rs142177821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866764 SCV001007903 benign not provided 2017-11-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001289575 SCV001477533 likely benign Hereditary factor VIII deficiency disease 2019-07-22 criteria provided, single submitter clinical testing

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