ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.1222C>T (p.Leu408=)

gnomAD frequency: 0.00217  dbSNP: rs149319732
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431272 SCV000527267 likely benign not specified 2016-07-13 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 RCV000873520 SCV001015524 benign ALG1-congenital disorder of glycosylation 2024-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001702478 SCV005217407 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702478 SCV001928553 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702478 SCV001969226 likely benign not provided no assertion criteria provided clinical testing

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