ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.-6A>G

gnomAD frequency: 0.82249  dbSNP: rs12125310
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733666 SCV001984424 benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2020-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714316 SCV005284087 benign not provided criteria provided, single submitter not provided

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