ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3884-17C>G

dbSNP: rs45517317
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125680 SCV000169142 benign not specified 2014-05-19 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.
Vantari Genetics RCV000210793 SCV000267097 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000125680 SCV000305206 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001797604 SCV002039389 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001797604 SCV002442692 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000210793 SCV004849337 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-23 criteria provided, single submitter clinical testing The c.3884-17C>G intronic alteration consists of a C to G substitution 17 nucleotides before coding exon 32 in the TSC2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Tuberous sclerosis database (TSC2) RCV000042773 SCV000066569 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579953 SCV001809157 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579953 SCV001919128 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000125680 SCV001969788 benign not specified no assertion criteria provided clinical testing

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