ClinVar Miner

Submissions for variant NM_000143.3(FH):c.105G>A (p.Ser35=) (rs181655698)

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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 RCV000130839 SCV000185737 benign Hereditary cancer-predisposing syndrome 2015-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000422755 SCV000516595 benign not specified 2015-09-14 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 RCV000400500 SCV000356730 likely benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302527 SCV000356731 likely benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230576 SCV000356732 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230576 SCV000283660 benign Fumarase deficiency 2018-01-16 criteria provided, single submitter clinical testing

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