ClinVar Miner

Submissions for variant NM_006757.4(TNNT3):c.367-9T>C

gnomAD frequency: 0.00859  dbSNP: rs76471485
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246488 SCV000311574 benign not specified 2016-02-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331506 SCV000369767 likely benign Arthrogryposis multiplex congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388403 SCV000369768 benign Distal arthrogryposis type 2B1 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 RCV001576992 SCV001804294 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001576992 SCV002408206 benign not provided 2024-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576992 SCV005223133 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000246488 SCV001923559 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246488 SCV001929829 benign not specified no assertion criteria provided clinical testing

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