ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.681C>T (p.Cys227=)

gnomAD frequency: 0.00034  dbSNP: rs45443205
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427770 SCV000515010 benign not specified 2015-08-07 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 RCV001082427 SCV000556497 benign Tuberous sclerosis 2 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571297 SCV000675526 benign Hereditary cancer-predisposing syndrome 2016-01-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000727275 SCV000707167 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001082427 SCV002041089 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571297 SCV002534093 benign Hereditary cancer-predisposing syndrome 2021-02-09 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000727275 SCV004221477 benign not provided 2017-12-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043158 SCV000066957 not provided Tuberous sclerosis syndrome no assertion provided curation

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