ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2634C>G (p.Ser878=)

gnomAD frequency: 0.00146  dbSNP: rs138843201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312742 SCV000847096 likely benign Inborn genetic diseases 2016-08-17 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.
Invitae RCV000963771 SCV001110945 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000963771 SCV001900639 benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338751 SCV004049801 likely benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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