ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5698G>A (p.Val1900Met)

gnomAD frequency: 0.00003  dbSNP: rs750823043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730575 SCV000238013 likely benign not provided 2019-10-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730575 SCV000858323 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293098 SCV001434082 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV000730575 SCV001715781 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing

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