ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)

gnomAD frequency: 0.01358  dbSNP: rs112668461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441055 SCV000524981 benign not specified 2016-04-25 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513724 SCV000610315 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV001083349 SCV000769718 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001083349 SCV002799986 likely benign ALG1-congenital disorder of glycosylation 2021-09-28 criteria provided, single submitter clinical testing

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