ClinVar Miner

Submissions for variant NM_006757.4(TNNT3):c.762C>T (p.Gly254=)

gnomAD frequency: 0.12344  dbSNP: rs4727
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118647 SCV000153061 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118647 SCV000311579 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000613906 SCV000369793 benign Distal arthrogryposis type 2B1 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 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.
Illumina Laboratory Services, Illumina RCV000373168 SCV000369794 likely benign Arthrogryposis multiplex congenita distal 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000024568 SCV001907961 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV000024568 SCV002407776 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (TNNT3) RCV000024568 SCV000045872 not provided not provided 2012-03-18 no assertion provided curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613906 SCV000733016 benign Distal arthrogryposis type 2B1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000118647 SCV001918108 benign not specified no assertion criteria provided clinical testing

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