ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57585C>T (p.Asn19195=)

dbSNP: rs1057523577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418702 SCV000532590 likely benign not specified 2016-10-13 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 RCV001170371 SCV001332945 likely benign Cardiomyopathy 2017-11-29 criteria provided, single submitter clinical testing

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