ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.354A>G (p.Thr118=) (rs558590898)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756350 SCV000253109 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455691 SCV000539700 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent variant. MaxMAF = 0.012% in ExAC. Classified in ClinVar as Likely Benign by Invitae (1 star).
Ambry Genetics RCV000575136 SCV000662436 likely benign Hereditary cancer-predisposing syndrome 2016-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000575136 SCV000690364 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756350 SCV000884136 likely benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756350 SCV000888278 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing

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