ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.882+1_882+3del

dbSNP: rs750225476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508801 SCV002818266 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Biomedical Innovation Departament, CIEMAT RCV001310294 SCV001500029 pathogenic Netherton syndrome 2020-02-01 no assertion criteria provided research

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