ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) (rs76801599)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574632 SCV000675418 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034608 SCV000043508 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000616913 SCV000730442 likely benign not specified 2017-04-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000054844 SCV000478191 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328079 SCV000478192 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228387 SCV000284707 benign Tuberous sclerosis 1 2017-12-08 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054844 SCV000066031 not provided Tuberous sclerosis syndrome no assertion provided curation

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