ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.4104T>G (p.Thr1368=)

gnomAD frequency: 0.10973  dbSNP: rs1571294
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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 RCV002312314 SCV000846289 benign Inborn genetic diseases 2016-03-24 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001537156 SCV001754002 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338746 SCV004049774 benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537156 SCV005284062 benign not provided criteria provided, single submitter not provided

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