ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.742+19G>A

dbSNP: rs373084007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128088 SCV000171679 benign not specified 2014-01-15 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 RCV002055806 SCV002450138 benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718026 SCV005319609 benign not provided criteria provided, single submitter not provided

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