ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25155C>T (p.Gly8385=)

gnomAD frequency: 0.00001  dbSNP: rs772383867
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643699 SCV000765386 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140019 SCV003827263 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing

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