ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) (rs752620885)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437848 SCV000534839 likely benign not specified 2016-12-09 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.
Invitae RCV001088499 SCV000555147 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-07-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713985 SCV000701504 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713985 SCV000844641 likely benign not provided 2018-01-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170081 SCV001332620 likely benign Cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing

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