ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) (rs45517203)

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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 RCV000163316 SCV000213844 likely benign Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Does not segregate with disease in family study (genes with incomplete penetrance),No disease association in small case-control study,Intact protein function observed in appropriate functional assay(s)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175145 SCV000226581 likely benign not specified 2014-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000175145 SCV000243552 likely benign not specified 2018-01-04 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 RCV000034647 SCV000262359 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054869 SCV000395591 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000989422 SCV001139745 likely benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034647 SCV000043530 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2) RCV000054869 SCV000067238 not provided Tuberous sclerosis syndrome no assertion provided curation

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