ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18528T>C (p.Tyr6176=)

gnomAD frequency: 0.00004  dbSNP: rs375408819
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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 RCV000475510 SCV000554996 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-06-04 criteria provided, single submitter clinical testing
GeneDx RCV001534154 SCV001751055 likely benign not provided 2020-08-06 criteria provided, single submitter clinical testing

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