ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)

gnomAD frequency: 0.00004  dbSNP: rs778338717
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734325 SCV000862456 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000734325 SCV000982909 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001496625 SCV001701327 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226379 SCV003923274 likely benign not specified 2023-03-27 criteria provided, single submitter clinical testing

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