ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.860-5C>T

gnomAD frequency: 0.00205  dbSNP: rs144435581
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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 RCV002316041 SCV000847447 benign Inborn genetic diseases 2019-04-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000955780 SCV001102509 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000955780 SCV001891838 benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338752 SCV004049834 benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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