ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1128-18A>T

gnomAD frequency: 0.00001  dbSNP: rs1057523181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443319 SCV000530984 likely benign not specified 2016-08-31 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 RCV002059881 SCV002325795 likely benign ALG6-congenital disorder of glycosylation 1C 2024-01-05 criteria provided, single submitter clinical testing

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