ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)

gnomAD frequency: 0.00005  dbSNP: rs56373393
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Total submissions: 6
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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 RCV000172458 SCV000055098 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001084753 SCV000286888 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000172458 SCV000715724 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769106 SCV000900479 uncertain significance Cardiomyopathy 2015-12-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172458 SCV001797432 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000614292 SCV001918327 benign not specified no assertion criteria provided clinical testing

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