ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)

dbSNP: rs750710267
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176464 SCV000228125 uncertain significance not provided 2014-08-28 criteria provided, single submitter clinical testing
Invitae RCV001413868 SCV001615989 likely benign Developmental and epileptic encephalopathy, 36 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517697 SCV003677812 benign Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003965272 SCV004794344 benign ALG13-related disorder 2020-08-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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