ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.723C>T (p.His241=)

gnomAD frequency: 0.07135  dbSNP: rs7195893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179507 SCV000231764 benign not specified 2017-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000179507 SCV000517501 benign not specified 2015-12-23 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 RCV001515619 SCV001723725 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing

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