ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) (rs45457694)

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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 RCV000566826 SCV000664732 likely benign Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification,Structural Evidence
CSER_CC_NCGL; University of Washington Medical Center RCV000042943 SCV000190666 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research
GeneDx RCV000248978 SCV000729184 likely benign not specified 2017-08-24 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 RCV000228102 SCV000285248 benign Tuberous sclerosis 2 2018-01-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248978 SCV000305151 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042943 SCV000066740 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055336 SCV000083556 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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