ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23433T>C (p.Ala7811=)

gnomAD frequency: 0.00003  dbSNP: rs770591753
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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 RCV002117404 SCV002407577 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711817 SCV005260065 likely benign not provided criteria provided, single submitter not provided

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