ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.300G>A (p.Ala100=) (rs45517100)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163268 SCV000213796 likely benign Hereditary cancer-predisposing syndrome 2014-07-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724097 SCV000230124 uncertain significance not provided 2014-08-27 criteria provided, single submitter clinical testing
Invitae RCV001082842 SCV000285324 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251650 SCV000305192 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043438 SCV000395558 likely benign Tuberous sclerosis syndrome 2019-02-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000724097 SCV000970448 likely benign not provided 2018-06-06 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724097 SCV001156190 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043438 SCV000067245 not provided Tuberous sclerosis syndrome no assertion provided curation

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