ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3647-10A>C (rs756569687)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589989 SCV000695880 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.3647-10A>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/119898 control chromosomes from ExAC at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Color Health, Inc RCV000774610 SCV000908426 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing
Invitae RCV000589989 SCV001087668 likely benign not provided 2018-10-10 criteria provided, single submitter clinical testing
Invitae RCV001502390 SCV001707224 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-10-09 criteria provided, single submitter clinical testing

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