ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) (rs370404391)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163808 SCV000214391 likely benign Hereditary cancer-predisposing syndrome 2017-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
GeneDx RCV000189940 SCV000243607 benign not specified 2018-01-22 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 RCV000585252 SCV000285436 benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055511 SCV000395672 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585252 SCV000692827 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055511 SCV000083734 not provided Tuberous sclerosis syndrome no assertion provided curation

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