ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu)

gnomAD frequency: 0.00001  dbSNP: rs1356720044
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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 RCV000643749 SCV000765436 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140023 SCV003827225 uncertain significance not provided 2020-08-07 criteria provided, single submitter clinical testing

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