ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.126A>C (p.Val42=) (rs118203335)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439867 SCV000519073 likely benign not specified 2015-10-28 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 RCV000557677 SCV000641496 benign Tuberous sclerosis 1 2017-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563826 SCV000675390 likely benign Hereditary cancer-predisposing syndrome 2015-07-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042002 SCV000065784 not provided Tuberous sclerosis syndrome no assertion provided curation

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