ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28353C>T (p.Ser9451=)

gnomAD frequency: 0.00001  dbSNP: rs777096848
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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 RCV001428478 SCV001631178 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-07-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700746 SCV001925350 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726553 SCV001962718 likely benign not provided no assertion criteria provided clinical testing

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