ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)

gnomAD frequency: 0.00001  dbSNP: rs757888367
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828350 SCV000970036 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170575 SCV001333163 uncertain significance Cardiomyopathy 2018-08-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000828350 SCV001809100 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000828350 SCV001976356 uncertain significance not provided no assertion criteria provided clinical testing

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