ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) (rs200494044)

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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 RCV000163290 SCV000213818 benign Hereditary cancer-predisposing syndrome 2015-09-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence;Other data supporting benign classification
GeneDx RCV000189900 SCV000243558 benign not specified 2017-09-15 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 RCV000205984 SCV000261806 benign Tuberous sclerosis 2 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000189900 SCV000305165 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350114 SCV000395599 likely benign Tuberous sclerosis syndrome 2018-09-12 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.
Athena Diagnostics Inc RCV000189900 SCV001476297 benign not specified 2020-06-02 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572810 SCV001797758 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001572810 SCV001925892 likely benign not provided no assertion criteria provided clinical testing

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