ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.988-8dup

dbSNP: rs779365053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841287 SCV000983248 likely benign not provided 2018-04-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003505133 SCV004281691 benign ALG6-congenital disorder of glycosylation 1C 2023-12-27 criteria provided, single submitter clinical testing

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