ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.266-19C>T

gnomAD frequency: 0.00001  dbSNP: rs1057522166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439370 SCV000526478 likely benign not specified 2016-04-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059004 SCV002397869 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing

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