ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73896T>C (p.Ser24632=)

gnomAD frequency: 0.00002  dbSNP: rs553251216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464857 SCV000555109 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-04-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700120 SCV001924340 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727729 SCV001973489 likely benign not provided no assertion criteria provided clinical testing

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