ClinVar Miner

Submissions for variant NM_001218.5(CA12):c.908-1G>A

gnomAD frequency: 0.00043  dbSNP: rs148438059
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Garry R Cutting Laboratory, Johns Hopkins University RCV000236291 SCV000255965 pathogenic Isolated hyperchlorhidrosis 2015-10-20 criteria provided, single submitter research
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000236291 SCV001425539 uncertain significance Isolated hyperchlorhidrosis criteria provided, single submitter research
Revvity Omics, Revvity RCV000236291 SCV002018022 likely pathogenic Isolated hyperchlorhidrosis 2023-03-22 criteria provided, single submitter clinical testing
GeneDx RCV002253287 SCV002525391 pathogenic not provided 2021-12-01 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; Published functional studies demonstrate that this variant leads to undetectable protein expression compared to wild type protein (Lee et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 26911677)
OMIM RCV000236291 SCV000803751 pathogenic Isolated hyperchlorhidrosis 2018-08-27 no assertion criteria provided literature only

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