ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.291C>G (p.Ala97=) (rs137933794)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229470 SCV000285320 benign Tuberous sclerosis 2 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252756 SCV000305189 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378878 SCV000395557 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000252756 SCV000515008 benign not specified 2015-09-18 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.
Ambry Genetics RCV000565061 SCV000664743 likely benign Hereditary cancer-predisposing syndrome 2015-01-15 criteria provided, single submitter clinical testing

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