ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly)

gnomAD frequency: 0.00001  dbSNP: rs745616639
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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 RCV000542612 SCV000642541 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734965 SCV000863150 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000734965 SCV003822262 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing

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