ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70287C>T (p.Asn23429=)

gnomAD frequency: 0.00002  dbSNP: rs757831376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601932 SCV000719309 likely benign not specified 2017-05-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529552 SCV003459229 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530776 SCV004732848 likely benign TTN-related disorder 2020-11-26 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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