ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)

gnomAD frequency: 0.00002  dbSNP: rs753121692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180774 SCV000233262 uncertain significance not provided 2015-03-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170635 SCV001333226 uncertain significance Cardiomyopathy 2017-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000180774 SCV001804243 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000180774 SCV003819671 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing

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