ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70424G>A (p.Arg23475His)

gnomAD frequency: 0.00004  dbSNP: rs370257707
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000304600 SCV000344891 uncertain significance not provided 2016-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529693 SCV000643603 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170344 SCV001332916 uncertain significance Cardiomyopathy 2017-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000304600 SCV003822198 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing

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