ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val)

gnomAD frequency: 0.00003  dbSNP: rs756786292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698461 SCV000727680 uncertain significance not provided 2020-10-19 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000642953 SCV000764640 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001698461 SCV003825474 uncertain significance not provided 2021-03-22 criteria provided, single submitter clinical testing

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