ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2612del (p.Pro871fs)

dbSNP: rs1951832349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Jena RCV001249537 SCV001422509 pathogenic Neuropathy, hereditary sensory and autonomic, type 2A 2020-07-08 no assertion criteria provided clinical testing

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