ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105783G>A (p.Pro35261=)

dbSNP: rs556765365
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470584 SCV001674680 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000893848 SCV001781995 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893848 SCV004704232 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004541841 SCV004769099 likely benign TTN-related disorder 2019-11-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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