ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)

gnomAD frequency: 0.00001  dbSNP: rs770101398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456900 SCV000543012 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-23 criteria provided, single submitter clinical testing
GeneDx RCV001770300 SCV001992990 uncertain significance not provided 2024-08-13 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); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Revvity Omics, Revvity RCV001770300 SCV003818455 uncertain significance not provided 2019-08-30 criteria provided, single submitter clinical testing

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