ClinVar Miner

Submissions for variant NM_001272071.2(AP1S2):c.288+5G>A

dbSNP: rs587776739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003326330 SCV004032925 likely pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing AP1S2: PM2, PP1:Moderate, PP3, PP4, PS3:Supporting
OMIM RCV000011527 SCV000031759 pathogenic Pettigrew syndrome 2007-11-01 no assertion criteria provided literature only

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