ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1423del (p.Glu475fs)

dbSNP: rs1271133647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196274 SCV001366840 likely pathogenic Familial cancer of breast 2019-10-23 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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