ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1593C>T (p.Ile531=) (rs45517180)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125652 SCV000169113 benign not specified 2013-10-23 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 RCV000232007 SCV000285249 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125652 SCV000305153 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042419 SCV000395584 likely benign Tuberous sclerosis syndrome 2018-05-03 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000565125 SCV000664600 likely benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042419 SCV000066210 not provided Tuberous sclerosis syndrome no assertion provided curation

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