ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)

gnomAD frequency: 0.00015  dbSNP: rs72996036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622489 SCV000742379 uncertain significance Inborn genetic diseases 2017-04-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Revvity Omics, Revvity RCV003133411 SCV003809157 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2021-05-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003133411 SCV004049818 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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