ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)

dbSNP: rs200540781
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462727 SCV000542503 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727806 SCV000855223 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769873 SCV000901299 uncertain significance Cardiomyopathy 2016-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727806 SCV003820163 uncertain significance not provided 2021-06-06 criteria provided, single submitter clinical testing
New York Genome Center RCV003448311 SCV004176156 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2023-07-25 criteria provided, single submitter clinical testing

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