ClinVar Miner

Submissions for variant NM_016734.3(PAX5):c.1026C>T (p.Ser342=)

gnomAD frequency: 0.00005  dbSNP: rs767690925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500509 SCV000596239 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524248 SCV003300672 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004955555 SCV005463424 likely benign Inborn genetic diseases 2024-11-17 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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