ClinVar Miner

Submissions for variant NM_005186.4(CAPN1):c.759+1G>A

dbSNP: rs1421591415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268798 SCV001447984 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268798 SCV005326233 pathogenic not provided 2024-03-01 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; This variant is associated with the following publications: (PMID: 31227335, 31355030, 28321562, 31982778, 33486633, 30572172, 32860341, 31289639, 33624863, 37787810)

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