ClinVar Miner

Submissions for variant NM_006757.4(TNNT3):c.636T>C (p.Ile212=)

gnomAD frequency: 0.03978  dbSNP: rs16927166
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118646 SCV000311576 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310949 SCV000369781 likely benign Arthrogryposis multiplex congenita distal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367927 SCV000369782 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.
GeneDx RCV000024567 SCV001942017 benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Invitae RCV000024567 SCV002344273 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (TNNT3) RCV000024567 SCV000045871 not provided not provided 2012-03-18 no assertion provided curation
Genetic Services Laboratory, University of Chicago RCV000118646 SCV000153060 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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