ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.47-6C>G

gnomAD frequency: 0.00003  dbSNP: rs375682055
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249732 SCV000309548 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000553573 SCV000641470 likely benign Nemaline myopathy 5 2023-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000553573 SCV001289343 uncertain significance Nemaline myopathy 5 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.
GeneDx RCV001582852 SCV001811941 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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