ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)

gnomAD frequency: 0.00005  dbSNP: rs150231219
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591041 SCV000708080 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000643755 SCV000765442 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765595 SCV000896910 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000591041 SCV000982214 likely benign not provided 2020-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30819905)
Revvity Omics, Revvity RCV000591041 SCV003821061 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150296 SCV003838066 benign Cardiomyopathy 2022-04-19 criteria provided, single submitter clinical testing

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