ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.390+13C>A

dbSNP: rs62036244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438501 SCV000522897 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000438501 SCV000705331 benign not specified 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV002062535 SCV002410113 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing

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