ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2775+4G>A

gnomAD frequency: 0.00086  dbSNP: rs548681281
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841843 SCV000983832 likely benign not provided 2018-04-13 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 RCV001089062 SCV001071028 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840205 SCV002101567 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840206 SCV002101569 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840207 SCV002101570 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840204 SCV002101571 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157569 SCV000207315 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-10-14 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157570 SCV000207316 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-10-14 no assertion criteria provided clinical testing

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