ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2775G>A (p.Lys925=)

gnomAD frequency: 0.00002  dbSNP: rs1055395161
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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 RCV002312749 SCV000847116 likely benign Inborn genetic diseases 2016-07-11 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 RCV001466626 SCV001670631 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457750 SCV004180689 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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