ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu)

dbSNP: rs1362220931
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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 RCV000643797 SCV000765484 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001756074 SCV001995352 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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