ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1216del (p.Thr406fs)

dbSNP: rs747947002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622478 SCV000742978 pathogenic Inborn genetic diseases 2017-09-29 criteria provided, single submitter clinical testing
OMIM RCV000488009 SCV000574724 pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2019-06-17 no assertion criteria provided literature only

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