ClinVar Miner

Submissions for variant NM_000143.3(FH):c.122C>T (p.Ala41Val) (rs201486221)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163787 SCV000214368 likely benign Hereditary cancer-predisposing syndrome 2017-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),No disease association in appropriately sized case-control study(ies),Other data supporting benign classification
GeneDx RCV000837956 SCV000979819 likely benign not provided 2018-05-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000394167 SCV000356727 likely benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299161 SCV000356728 likely benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342312 SCV000356729 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000342312 SCV000544263 likely benign Fumarase deficiency 2018-01-05 criteria provided, single submitter clinical testing

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