ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)

gnomAD frequency: 0.00003  dbSNP: rs373140387
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422241 SCV000515142 benign not specified 2016-10-03 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.
Invitae RCV000864114 SCV001004873 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000422241 SCV001160329 likely benign not specified 2018-07-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840529 SCV002100536 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840530 SCV002100537 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840531 SCV002100538 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840528 SCV002100539 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429366 SCV002743997 likely benign Cardiovascular phenotype 2021-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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