ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr)

gnomAD frequency: 0.00012  dbSNP: rs150137596
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840184 SCV000982104 likely benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087009 SCV001001475 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288102 SCV001474961 benign not specified 2024-06-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840742 SCV002100818 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840743 SCV002100820 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840744 SCV002100821 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840741 SCV002100822 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538154 SCV004722610 benign TTN-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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