ClinVar Miner

Submissions for variant NM_001029871.4(RSPO4):c.79+1G>A

gnomAD frequency: 0.00012  dbSNP: rs775644973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622661 SCV000741768 pathogenic Inborn genetic diseases 2016-09-12 criteria provided, single submitter clinical testing
GeneDx RCV003222063 SCV003918723 pathogenic not provided 2022-12-14 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22300369, 17805348, 17186469, 17914448, 34426522, 31589614, 23234511, 34582790, 17041604)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003444150 SCV004171235 pathogenic Anonychia 2023-11-30 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003444150 SCV004809903 pathogenic Anonychia 2024-04-04 criteria provided, single submitter clinical testing

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