ClinVar Miner

Submissions for variant NM_000143.3(FH):c.357A>C (p.Ala119=) (rs767209674)

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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 RCV000218878 SCV000278148 likely benign Hereditary cancer-predisposing syndrome 2015-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000461347 SCV000556451 likely benign Fumarase deficiency 2016-04-29 criteria provided, single submitter clinical testing

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