ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter)

gnomAD frequency: 0.00001  dbSNP: rs1064797099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000487769 SCV005374273 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2024-09-22 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV005222964 SCV005871483 pathogenic Familial cancer of breast; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PM6_VeryStrong+PS3_Supporting+PP4
OMIM RCV000487769 SCV000574726 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2019-06-17 no assertion criteria provided literature only

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