ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.24+1G>A

dbSNP: rs1064795388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478219 SCV000571143 pathogenic not provided 2024-02-12 criteria provided, single submitter clinical testing 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28327570)
Bristol Genetics Laboratory, North Bristol NHS Trust RCV000478219 SCV000575900 likely pathogenic not provided 2017-01-19 criteria provided, single submitter research

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