ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys)

gnomAD frequency: 0.00002  dbSNP: rs765032242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172324 SCV000054994 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000552508 SCV000643250 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-25 criteria provided, single submitter clinical testing

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