ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)

gnomAD frequency: 0.00001  dbSNP: rs746842727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726766 SCV000702914 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000594756 SCV000715792 likely benign not specified 2017-02-03 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 RCV001423722 SCV001626304 likely benign Developmental and epileptic encephalopathy, 36 2023-12-20 criteria provided, single submitter clinical testing

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