ClinVar Miner

Submissions for variant NM_004928.3(CFAP410):c.643-23A>T

dbSNP: rs1131690800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000492061 SCV001430057 pathogenic Axial spondylometaphyseal dysplasia 2019-09-09 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000492061 SCV005016572 likely pathogenic Axial spondylometaphyseal dysplasia 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000492061 SCV000580659 pathogenic Axial spondylometaphyseal dysplasia 2018-07-17 no assertion criteria provided literature only

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