ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu)

gnomAD frequency: 0.00001  dbSNP: rs776274777
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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 RCV000528690 SCV000643268 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139800 SCV003827252 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing

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