ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.83C>T (p.Ser28Phe)

dbSNP: rs1439970488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331945 SCV001524112 uncertain significance Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2020-02-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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