ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19962C>T (p.Ser6654=)

gnomAD frequency: 0.00005  dbSNP: rs765887722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001497472 SCV001702201 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533887 SCV004750239 likely benign TTN-related disorder 2019-06-24 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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