ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe)

gnomAD frequency: 0.00005  dbSNP: rs199505558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613209 SCV000717762 likely benign not specified 2017-03-30 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 RCV000650339 SCV000772182 likely benign Developmental and epileptic encephalopathy, 36 2024-01-14 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002508941 SCV002818433 not provided Developmental and epileptic encephalopathy, 1; Congenital disorder of glycosylation no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 03-05-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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