Submissions for variant NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) (rs45478595)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189920	SCV000243583	benign	not specified	2016-11-23	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	RCV000234156	SCV000285367	benign	Tuberous sclerosis 2	2017-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571393	SCV000675466	benign	Hereditary cancer-predisposing syndrome	2015-07-23	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034652	SCV000043535	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2)	RCV000054868	SCV000067095	not provided	Tuberous sclerosis syndrome		no assertion provided	curation