ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) (rs118203751)

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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 RCV000163601 SCV000214165 likely benign Hereditary cancer-predisposing syndrome 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000438214 SCV000525573 likely benign not specified 2017-11-22 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 RCV000458280 SCV000562513 benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042272 SCV000066061 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054986 SCV000083204 not provided Bladder cancer, somatic no assertion provided curation

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