ClinVar Miner

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

dbSNP: rs62036244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081986 SCV000113921 benign not specified 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000081986 SCV000517514 benign not specified 2015-12-17 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.
Invitae RCV001510536 SCV001717598 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081986 SCV002500482 benign not specified 2022-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510536 SCV002801161 benign ALG1-congenital disorder of glycosylation 2022-04-08 criteria provided, single submitter clinical testing

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