ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1798A>G (p.Met600Val)

gnomAD frequency: 0.00003  dbSNP: rs189931917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493836 SCV000583063 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081443 SCV000772190 likely benign Developmental and epileptic encephalopathy, 36 2024-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413360 SCV002716894 likely benign Inborn genetic diseases 2021-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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