ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1911T>C (p.His637=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003300924 SCV003997302 likely benign Inborn genetic diseases 2023-04-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761646 SCV004508262 likely benign Congenital factor V deficiency 2023-10-31 criteria provided, single submitter clinical testing

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