ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) (rs397515209)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190025 SCV000243697 likely benign not specified 2014-07-21 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190025 SCV000540609 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband with features of TSC and the unaffected parent of a child with autism. ClinVar: VUS by GeneDx (who report they have seen it on their epilepsy panel?)
Invitae RCV000458400 SCV000544529 benign Tuberous sclerosis 2 2018-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571810 SCV000664598 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Tuberous sclerosis database (TSC2) RCV000055507 SCV000083730 not provided Autism spectrum disorder no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055604 SCV000083829 not provided Tuberous sclerosis syndrome no assertion provided curation

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