ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)

dbSNP: rs750710267
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724436 SCV000700767 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000724436 SCV000729311 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785080 SCV000923635 uncertain significance Developmental and epileptic encephalopathy, 36 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000785080 SCV000950892 likely benign Developmental and epileptic encephalopathy, 36 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530951 SCV003701516 likely benign Inborn genetic diseases 2021-04-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV000724436 SCV004167461 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ALG13: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724436 SCV001927780 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724436 SCV001974352 likely benign not provided no assertion criteria provided clinical testing

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