ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1439C>G (p.Ser480Ter) (rs1131691245)

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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 RCV000493518 SCV000581668 likely pathogenic Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Structural Evidence,Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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