ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)

gnomAD frequency: 0.00002  dbSNP: rs187257105
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Total submissions: 4
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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 RCV000172280 SCV000054955 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172280 SCV000228408 uncertain significance not provided 2014-06-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768955 SCV000900328 uncertain significance Cardiomyopathy 2023-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086075 SCV001014904 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-04 criteria provided, single submitter clinical testing

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