ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs)

dbSNP: rs1057519511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000417031 SCV000494475 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2017-02-09 no assertion criteria provided literature only
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000505254 SCV000599249 pathogenic Neurodevelopmental disorder 2016-11-25 no assertion criteria provided clinical testing

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