ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)

gnomAD frequency: 0.00046  dbSNP: rs192953152
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118759 SCV000153280 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
Invitae RCV001088433 SCV000555067 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-13 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000118759 SCV000709118 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000835844 SCV000977666 benign not provided 2018-03-20 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.
Athena Diagnostics Inc RCV000835844 SCV001146415 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000835844 SCV002048593 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839897 SCV002100634 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839898 SCV002100635 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839899 SCV002100636 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839896 SCV002100637 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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