ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)

dbSNP: rs1598413570
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Discovery Core-Manton Center, Boston Children's Hospital RCV000791346 SCV000930674 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2019-02-05 no assertion criteria provided clinical testing

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