ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs)

dbSNP: rs1553216467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626083 SCV000746707 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2020-05-03 criteria provided, single submitter clinical testing

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