ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2626-5_2626-4del

dbSNP: rs5901000
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176158 SCV000227769 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520755 SCV001729937 benign Tuberous sclerosis 1 2018-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001668337 SCV001885441 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520755 SCV002040370 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002221210 SCV002498689 benign Lymphangiomyomatosis 2023-03-30 criteria provided, single submitter clinical testing Population allele frequency is 4.7% (rs118203716, 4,915/103,824 alleles in gnomAD v2.1). Based on classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria are met: BA1.
Sema4, Sema4 RCV002256093 SCV002528885 benign Hereditary cancer-predisposing syndrome 2020-05-20 criteria provided, single submitter curation
Ambry Genetics RCV002256093 SCV002744646 benign Hereditary cancer-predisposing syndrome 2020-07-06 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.
Fulgent Genetics, Fulgent Genetics RCV002478574 SCV002794654 benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-09-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995682 SCV004815913 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000176158 SCV001926219 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000176158 SCV001963009 benign not specified no assertion criteria provided clinical testing

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