ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) (rs139779505)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703958 SCV000243613 benign not provided 2019-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21984974, 22903760, 24631838, 27176796, 22558107, 28088512, 23514105)
Invitae RCV000226075 SCV000285442 benign Tuberous sclerosis 2 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000189946 SCV000305239 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000189946 SCV000615922 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564969 SCV000664683 likely benign Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Intact protein function observed in appropriate functional assay(s)
Tuberous sclerosis database (TSC2) RCV000055187 SCV000083405 not provided Tuberous sclerosis syndrome no assertion provided curation

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