ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.1092C>G (p.Val364=)

gnomAD frequency: 0.00221  dbSNP: rs113602091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720084 SCV000520259 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872375 SCV001014175 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001720084 SCV004141049 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ALG1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902510 SCV004725540 likely benign ALG1-related disorder 2019-07-02 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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