ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1128-1G>A

dbSNP: rs1644631015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262921 SCV001440975 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2019-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001262921 SCV004197455 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2022-12-06 criteria provided, single submitter clinical testing

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