ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101979C>T (p.Ser33993=)

gnomAD frequency: 0.00001  dbSNP: rs1429749651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000938850 SCV001471995 likely benign not provided 2020-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001495787 SCV001700476 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486948 SCV004240224 likely benign Cardiomyopathy 2022-11-18 criteria provided, single submitter clinical testing

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