ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.167+8A>G

gnomAD frequency: 0.00001  dbSNP: rs902593542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441745 SCV001644681 likely benign ALG6-congenital disorder of glycosylation 1C 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908651 SCV004722813 likely benign ALG6-related disorder 2019-06-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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