ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.555C>T (p.Tyr185=) (rs118203398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444626 SCV000530420 likely benign not specified 2016-07-28 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 RCV000460407 SCV000562505 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024274 SCV001186259 likely benign Hereditary cancer-predisposing syndrome 2018-01-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Tuberous sclerosis database (TSC1) RCV000042308 SCV000066097 not provided Tuberous sclerosis syndrome no assertion provided curation

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