ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)

gnomAD frequency: 0.00414  dbSNP: rs139619000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534077 SCV000647897 benign Syndromic X-linked intellectual disability Raymond type 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720979 SCV000851863 likely benign History of neurodevelopmental disorder 2014-09-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genetic Services Laboratory, University of Chicago RCV001821562 SCV002066084 benign not specified 2017-12-29 criteria provided, single submitter clinical testing

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