ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.279A>G (p.Glu93=)

gnomAD frequency: 0.00292  dbSNP: rs34313388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080396 SCV000641467 benign Nemaline myopathy 5 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000024551 SCV000731073 likely benign not provided 2021-11-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080396 SCV001294539 uncertain significance Nemaline myopathy 5 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Leiden Muscular Dystrophy (TNNT1) RCV000024551 SCV000045855 not provided not provided 2012-03-18 no assertion provided curation

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