ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.789G>A (p.Lys263=)

gnomAD frequency: 0.13293  dbSNP: rs6114033
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375610 SCV000433141 benign Spinocerebellar ataxia type 35 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.
GeneDx RCV001711957 SCV001943774 benign not provided 2020-08-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000375610 SCV002098917 benign Spinocerebellar ataxia type 35 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711957 SCV003202344 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711957 SCV005315545 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723931 SCV001959029 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723931 SCV001966745 benign not specified no assertion criteria provided clinical testing

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