ClinVar Miner

Submissions for variant NM_000143.3(FH):c.539A>G (p.His180Arg) (rs863224015)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493387 SCV000581659 likely pathogenic Hereditary cancer-predisposing syndrome 2015-11-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s)

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