Submissions for variant NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)

dbSNP: rs137854239

Total submissions: 26

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000131063	SCV000185993	benign	Hereditary cancer-predisposing syndrome	2017-07-20	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000122238	SCV000229772	benign	not specified	2016-12-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000122238	SCV000243599	benign	not specified	2013-09-30	criteria provided, single submitter	clinical testing	The variant is found in EPILEPSY,INFANT-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206029	SCV000262487	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000122238	SCV000305224	benign	not specified	2018-02-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042561	SCV000395656	likely benign	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000122238	SCV000540599	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.9% (155/16504) South Asian chromosomes. ClinVar: 3 labs classify as benign/likely benign
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000034659	SCV000609596	benign	not provided	2017-07-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000206029	SCV000677549	benign	Tuberous sclerosis 2	2017-05-25	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000206029	SCV000782412	uncertain significance	Tuberous sclerosis 2	2016-11-01	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000122238	SCV000864295	likely benign	not specified	2017-07-17	criteria provided, single submitter	clinical testing	BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034659	SCV000884753	benign	not provided	2022-08-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000206029	SCV001139760	likely benign	Tuberous sclerosis 2	2019-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000122238	SCV002070009	benign	not specified	2021-06-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000131063	SCV002533939	benign	Hereditary cancer-predisposing syndrome	2020-02-24	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000034659	SCV002545718	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TSC2: PM4:Supporting, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000122238	SCV002598664	likely benign	not specified	2022-09-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000122238	SCV002774075	benign	not specified	2022-02-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000206029	SCV004016126	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000206029	SCV004360920	benign	Tuberous sclerosis 2	2022-09-20	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034659	SCV000043542	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2)	RCV000042561	SCV000066355	not provided	Tuberous sclerosis syndrome	2011-04-06	no assertion provided	curation
Tuberous sclerosis database (TSC2)	RCV000042561	SCV000066879	not provided	Tuberous sclerosis syndrome	2011-04-06	no assertion provided	curation
ITMI	RCV000122238	SCV000086461	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000034659	SCV001808882	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000122238	SCV001921709	benign	not specified		no assertion criteria provided	clinical testing