ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.915G>C (p.Gly305=) (rs397515293)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563469 SCV000675350 likely benign Hereditary cancer-predisposing syndrome 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000713911 SCV000844555 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000242646 SCV000517267 likely benign not specified 2017-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000311881 SCV000478249 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368800 SCV000478250 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234390 SCV000284746 benign Tuberous sclerosis 1 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242646 SCV000303876 likely benign not specified criteria provided, single submitter clinical testing

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