ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36318A>G (p.Lys12106=)

gnomAD frequency: 0.02057  dbSNP: rs2115557
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082039 SCV000262114 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000835186 SCV000976969 benign not provided 2018-06-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000835186 SCV001471040 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840329 SCV002101364 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840330 SCV002101365 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840331 SCV002101366 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840328 SCV002101367 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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