ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22956T>C (p.Ser7652=)

gnomAD frequency: 0.00004  dbSNP: rs1004007215
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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 RCV001493577 SCV001698210 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-27 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699494 SCV001921713 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000978154 SCV001968038 likely benign not provided no assertion criteria provided clinical testing

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