ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99866-10C>T

gnomAD frequency: 0.00034  dbSNP: rs773128928
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184115 SCV000236696 benign not specified 2014-09-23 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 RCV000472360 SCV000555445 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000184115 SCV001475828 benign not specified 2020-09-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840279 SCV002101694 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840280 SCV002101696 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840281 SCV002101697 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840278 SCV002101698 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000184115 SCV002600837 uncertain significance not specified 2022-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710573 SCV005259352 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004537538 SCV004717917 likely benign TTN-related disorder 2024-01-19 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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