ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)

gnomAD frequency: 0.00004  dbSNP: rs368572799
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459308 SCV000542417 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-15 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714639 SCV000845353 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714640 SCV000845354 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765573 SCV000896888 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852527 SCV000995225 uncertain significance Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402232 SCV002709917 likely benign Cardiovascular phenotype 2019-09-05 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.
Revvity Omics, Revvity RCV003139609 SCV003819800 uncertain significance not provided 2022-11-24 criteria provided, single submitter clinical testing

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