ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.9330A>G (p.Leu3110=)

gnomAD frequency: 0.00001  dbSNP: rs749144612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397450 SCV001599197 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377599 SCV002686119 likely benign Inborn genetic diseases 2019-05-20 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.
Genome-Nilou Lab RCV003458036 SCV004178069 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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