ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.552G>C (p.Val184=) (rs118203397)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130383 SCV000185239 benign Hereditary cancer-predisposing syndrome 2016-01-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Co-occurence with mutation in same gene (phase unknown)
Invitae RCV000232155 SCV000284731 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246353 SCV000303871 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246353 SCV000514987 benign not specified 2017-07-19 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.
Tuberous sclerosis database (TSC1) RCV000042307 SCV000066096 not provided Tuberous sclerosis syndrome no assertion provided curation

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