ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs)

dbSNP: rs1567977657
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000767536 SCV000898156 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2018-07-12 no assertion criteria provided clinical testing

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