ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) (rs45490792)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122211 SCV000226740 likely benign not specified 2015-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000122211 SCV000243555 likely benign not specified 2017-11-27 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202889 SCV000257718 likely benign Tuberous sclerosis 2 2015-06-26 criteria provided, single submitter clinical testing
Invitae RCV000202889 SCV000285263 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043458 SCV000395595 likely benign Tuberous sclerosis syndrome 2018-12-03 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 RCV000574169 SCV000664693 likely benign Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Tuberous sclerosis database (TSC2) RCV000043458 SCV000067268 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122211 SCV000086432 not provided not specified 2013-09-19 no assertion provided reference population

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