ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)

gnomAD frequency: 0.00009  dbSNP: rs72646892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725479 SCV000700986 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000725479 SCV000726956 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170343 SCV001332915 uncertain significance Cardiomyopathy 2018-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000725479 SCV001714042 uncertain significance not provided 2019-05-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725479 SCV003825897 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing

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