ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.391-24C>T

gnomAD frequency: 0.94238  dbSNP: rs4786590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549004 SCV001769043 benign ALG1-congenital disorder of glycosylation 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647414 SCV001860585 benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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