ClinVar Miner

Submissions for variant NM_000143.3(FH):c.6C>T (p.Tyr2=) (rs199971078)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163845 SCV000214431 likely benign Hereditary cancer-predisposing syndrome 2014-07-15 criteria provided, single submitter clinical testing
Invitae RCV000676940 SCV000283676 benign not provided 2019-02-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000241727 SCV000302642 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000241727 SCV000533415 likely benign not specified 2017-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676940 SCV000802762 likely benign not provided 2016-03-14 no assertion criteria provided clinical testing

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