ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)

dbSNP: rs1569508922
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735326 SCV000854480 likely pathogenic Global developmental delay; Cerebral visual impairment; Microcephaly; Osteopenia; Infantile spasms criteria provided, single submitter clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156121 SCV003845250 likely pathogenic See cases 2022-12-21 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001543373 SCV001761931 likely pathogenic Congenital disorder of glycosylation no assertion criteria provided research

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