ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) (rs118203699)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000576111 SCV000664659 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000464791 SCV000552367 benign Tuberous sclerosis 1 2017-11-29 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042213 SCV000065999 not provided Tuberous sclerosis syndrome no assertion provided curation

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