ClinVar Miner

Submissions for variant NM_000143.3(FH):c.77C>T (p.Pro26Leu) (rs187226800)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121090 SCV000251414 benign not specified 2014-07-10 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.
Invitae RCV000858700 SCV000283679 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121090 SCV000302644 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392281 SCV000356733 likely benign Multiple cutaneous leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310688 SCV000356734 likely benign Multiple Cutaneous and Uterine Leiomyomas 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227292 SCV000356735 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570367 SCV000664486 benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ITMI RCV000121090 SCV000085258 not provided not specified 2013-09-19 no assertion provided reference population

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