ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2415C>T (p.Val805=) (rs45517235)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438807 SCV000534367 likely benign not specified 2017-06-22 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 RCV000644322 SCV000766015 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015271 SCV001176087 likely benign Hereditary cancer-predisposing syndrome 2018-01-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Tuberous sclerosis database (TSC2) RCV000042991 SCV000066789 not provided Tuberous sclerosis syndrome no assertion provided curation

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