ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1821G>A (p.Ala607=) (rs149543046)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125654 SCV000169116 benign not specified 2014-03-20 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.
Ambry Genetics RCV000163320 SCV000213848 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125654 SCV000305160 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000466723 SCV000556609 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055610 SCV001277390 likely benign Tuberous sclerosis syndrome 2017-04-27 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.
Tuberous sclerosis database (TSC2) RCV000055610 SCV000083835 not provided Tuberous sclerosis syndrome no assertion provided curation

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