ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)

gnomAD frequency: 0.00009  dbSNP: rs182934463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725004 SCV000333120 uncertain significance not provided 2015-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000725004 SCV000520496 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087505 SCV000555595 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235171 SCV003934102 likely benign not specified 2023-05-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003235171 SCV005622373 likely benign not specified 2024-03-06 criteria provided, single submitter clinical testing

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