ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) (rs45509392)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189897 SCV000243554 likely benign not specified 2017-12-27 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 RCV000034648 SCV000556543 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562486 SCV000675487 likely benign Hereditary cancer-predisposing syndrome 2016-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Other data supporting benign classification
Mendelics RCV000989423 SCV001139746 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034648 SCV000043531 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2) RCV000054861 SCV000067267 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000054861 SCV000190672 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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