ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) (rs750710267)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724436 SCV000700767 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000595959 SCV000729311 likely benign not specified 2017-09-25 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785080 SCV000923635 uncertain significance Epileptic encephalopathy, early infantile, 36 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000785080 SCV000950892 likely benign Epileptic encephalopathy, early infantile, 36 2020-01-05 criteria provided, single submitter clinical testing

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