ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.762+2T>C

gnomAD frequency: 0.00008  dbSNP: rs112915100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788853 SCV000928121 likely pathogenic not provided 2018-12-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784401 SCV002024743 likely pathogenic Polycystic liver disease 1 2021-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001784401 SCV002811057 likely pathogenic Polycystic liver disease 1 2024-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000788853 SCV003927304 likely pathogenic not provided 2023-05-22 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, 12529853)
Genomics And Bioinformatics Analysis Resource, Columbia University RCV001784401 SCV004024105 likely pathogenic Polycystic liver disease 1 no assertion criteria provided research

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