ClinVar Miner

Submissions for variant NM_000143.3(FH):c.957C>T (p.Asp319=) (rs146751488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543460 SCV000632498 likely benign Fumarase deficiency 2017-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567373 SCV000673385 likely benign Hereditary cancer-predisposing syndrome 2016-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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