ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1341C>T (p.Val447=)

gnomAD frequency: 0.00001  dbSNP: rs777326636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945705 SCV001091750 benign ALG6-congenital disorder of glycosylation 1C 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818927 SCV002071228 likely benign not specified 2019-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000945705 SCV002796540 likely benign ALG6-congenital disorder of glycosylation 1C 2022-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411907 SCV004128231 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ALG6: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003933236 SCV004748043 likely benign ALG6-related disorder 2019-06-28 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).
Natera, Inc. RCV000945705 SCV001456287 benign ALG6-congenital disorder of glycosylation 1C 2020-09-16 no assertion criteria provided clinical testing

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