ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup)

dbSNP: rs56717389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518243 SCV001726901 benign Developmental and epileptic encephalopathy, 36 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001692417 SCV001907351 benign not provided 2019-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518243 SCV002524936 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001692417 SCV001926755 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001692417 SCV001966685 likely benign not provided no assertion criteria provided clinical testing

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