ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) (rs137854152)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000043239 SCV000395662 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000431036 SCV000535093 likely benign not specified 2018-01-25 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 RCV000464259 SCV000556506 benign Tuberous sclerosis 2 2017-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564650 SCV000675479 likely benign Hereditary cancer-predisposing syndrome 2016-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Tuberous sclerosis database (TSC2) RCV000043239 SCV000067040 not provided Tuberous sclerosis syndrome no assertion provided curation

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