ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63972C>T (p.Ser21324=)

gnomAD frequency: 0.00001  dbSNP: rs2049219255
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499983 SCV001704758 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057455 SCV005726753 likely benign not specified 2024-11-11 criteria provided, single submitter clinical testing

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