ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1600-14C>T

dbSNP: rs45517185
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155580 SCV000169114 benign not specified 2012-03-08 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155580 SCV000205286 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1600-14C>T in intron 15 of TSC2: This variant is not expected to have clinical s ignificance because it has been identified in 6.9% (597/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs45517185).
PreventionGenetics, part of Exact Sciences RCV000155580 SCV000305154 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043407 SCV000395585 benign Tuberous sclerosis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811311 SCV001158900 benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001797610 SCV002041356 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001797610 SCV002404030 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001797610 SCV004016093 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001797610 SCV004360867 benign Tuberous sclerosis 2 2019-03-29 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043407 SCV000067213 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055598 SCV000083823 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation
Clinical Genetics, Academic Medical Center RCV000155580 SCV001918578 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000155580 SCV001931605 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000155580 SCV001969264 benign not specified no assertion criteria provided clinical testing

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