ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.741-111T>C

gnomAD frequency: 0.96843  dbSNP: rs2110339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549007 SCV001769046 benign ALG1-congenital disorder of glycosylation 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655876 SCV001864969 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655876 SCV005296517 benign not provided criteria provided, single submitter not provided

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