ClinVar Miner

Submissions for variant NM_003470.3(USP7):c.383+1G>C

dbSNP: rs1567227059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003317354 SCV000854433 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing
GeneDx RCV003317354 SCV004021922 pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing De novo variant with confirmed parentage in a proband with hypotonia, duplication of proximal phalanx of the thumb, and global developmental delay (Ji et al., 2019); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30755392)

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