ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.266-10C>T

dbSNP: rs2067879183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799394 SCV002041945 likely benign Cardiomyopathy 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077232 SCV002470153 likely benign X-linked Emery-Dreifuss muscular dystrophy 2021-05-10 criteria provided, single submitter clinical testing

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