ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.410+1G>A

gnomAD frequency: 0.00001  dbSNP: rs375224787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658743 SCV001872982 pathogenic not provided 2023-07-25 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; This variant is associated with the following publications: (PMID: 25525159, 32441320, 33534181, Nerakh2022[Case report], 22089833, 19683336, 33890311)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796647 SCV005417362 pathogenic Netherton syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Strong

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