ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4525C>T (p.Leu1509=)

dbSNP: rs1557566670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317513 SCV000850933 likely benign Inborn genetic diseases 2016-01-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001459953 SCV001663809 likely benign not provided 2020-02-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457777 SCV004179937 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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