ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) (rs35118875)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125696 SCV000169160 benign not specified 2013-04-08 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 RCV000231350 SCV000285432 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125696 SCV000305236 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043270 SCV000395670 likely benign Tuberous sclerosis syndrome 2018-02-22 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 RCV000562851 SCV000664657 benign Hereditary cancer-predisposing syndrome 2015-03-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Tuberous sclerosis database (TSC2) RCV000043270 SCV000067072 not provided Tuberous sclerosis syndrome no assertion provided curation

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