ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4569+12C>T

gnomAD frequency: 0.00008  dbSNP: rs45517350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000043122 SCV000395658 uncertain significance Tuberous sclerosis syndrome 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514983 SCV000609911 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000608845 SCV000716399 likely benign not specified 2017-03-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054855 SCV002487126 likely benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043122 SCV000066921 not provided Tuberous sclerosis syndrome no assertion provided curation

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