ClinVar Miner

Submissions for variant NM_000143.3(FH):c.63C>T (p.Ala21=) (rs555404867)

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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 RCV000166876 SCV000217692 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000604245 SCV000728386 likely benign not specified 2018-03-13 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 RCV000270051 SCV000356736 likely benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332150 SCV000356737 likely benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370510 SCV000356738 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000370510 SCV000632476 likely benign Fumarase deficiency 2017-07-19 criteria provided, single submitter clinical testing

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