ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82842G>A (p.Ala27614=)

gnomAD frequency: 0.00003  dbSNP: rs370505439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940838 SCV001086706 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486949 SCV004240131 likely benign Cardiomyopathy 2023-06-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711434 SCV005259405 likely benign not provided criteria provided, single submitter not provided

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