ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64541C>T (p.Ala21514Val)

dbSNP: rs1060500520
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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 RCV000474084 SCV000542851 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-09 criteria provided, single submitter clinical testing
GeneDx RCV005004162 SCV005628909 uncertain significance not provided 2024-07-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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