ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)

gnomAD frequency: 0.00005  dbSNP: rs782363141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991019 SCV001142120 uncertain significance Hereditary factor VIII deficiency disease 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479157 SCV002782684 uncertain significance Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 2022-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438649 SCV004166005 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing

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