ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.356A>G (p.His119Arg)

gnomAD frequency: 0.00002  dbSNP: rs1402052236
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333147 SCV001525643 uncertain significance Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2018-07-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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