ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43748-4G>A

dbSNP: rs1301078575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490437 SCV001694998 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-07 criteria provided, single submitter clinical testing
GeneDx RCV003159833 SCV003915129 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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