ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) (rs397515062)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163902 SCV000214496 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000189923 SCV000243588 likely benign not specified 2017-01-27 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 RCV000476957 SCV000556516 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055293 SCV000083513 not provided Tuberous sclerosis syndrome no assertion provided curation

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