ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1266C>T (p.Gly422=) (rs63750791)

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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 RCV000218731 SCV000274501 likely benign Hereditary cancer-predisposing syndrome 2015-03-15 criteria provided, single submitter clinical testing
Invitae RCV000524230 SCV000284014 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000423630 SCV000530730 likely benign not specified 2018-02-13 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.
Color RCV000218731 SCV000689798 benign Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Counsyl RCV000662538 SCV000785115 likely benign Lynch syndrome II 2017-04-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000662538 SCV001308771 uncertain significance Lynch syndrome II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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