ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2451C>T (p.Asp817=) (rs201442542)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125662 SCV000169124 benign not specified 2014-04-17 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 RCV000231431 SCV000285295 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125662 SCV000305175 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055195 SCV000395611 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000125662 SCV000615892 benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568818 SCV000675523 likely benign Hereditary cancer-predisposing syndrome 2015-08-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,In silico models in agreement (benign)
Tuberous sclerosis database (TSC2) RCV000055195 SCV000083413 not provided Tuberous sclerosis syndrome no assertion provided curation

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