ClinVar Miner

Submissions for variant NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) (rs137854239)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034659 SCV000884753 benign not provided 2017-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131063 SCV000185993 benign Hereditary cancer-predisposing syndrome 2017-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Intact protein function observed in appropriate functional assay(s),Does not segregate with disease in family study (genes with incomplete penetrance),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000206029 SCV000677549 benign Tuberous sclerosis 2 2017-05-25 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.
Center for Human Genetics, Inc RCV000206029 SCV000782412 uncertain significance Tuberous sclerosis 2 2016-11-01 criteria provided, single submitter clinical testing
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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).
ITMI RCV000122238 SCV000086461 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000042561 SCV000395656 likely benign Tuberous sclerosis syndrome 2016-06-14 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).
Invitae RCV000206029 SCV000262487 benign Tuberous sclerosis 2 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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
PreventionGenetics RCV000122238 SCV000305224 likely benign not specified criteria provided, single submitter clinical testing
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

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