ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27186T>G (p.Gly9062=)

gnomAD frequency: 0.00003  dbSNP: rs745874179
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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 RCV000866902 SCV001008065 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664502 SCV001880237 likely benign not specified 2021-05-20 criteria provided, single submitter clinical testing

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