ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2094A>G (p.Ser698=) (rs786202433)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165242 SCV000215956 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000420728 SCV000527283 likely benign not specified 2016-04-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000590346 SCV000696138 uncertain significance not provided 2016-11-18 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.2094A>G (p.Ser698Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant while 3/5 splice site tools predict the variant not to have a significant impact on normal splicing. This variant is absent in 120336 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000226776 SCV000284048 likely benign Hereditary nonpolyposis colon cancer 2017-11-27 criteria provided, single submitter clinical testing

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