ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1270dup (p.Glu424fs)

dbSNP: rs1064797098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000488394 SCV005368374 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2024-07-31 criteria provided, single submitter clinical testing Criteria applied: PS2_VSTR,PVS1_STR,PS4_MOD,PM2
OMIM RCV000488394 SCV000574725 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2019-06-17 no assertion criteria provided literature only

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