ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser)

dbSNP: rs879255556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Research Council, Institute of Genetics and Biomedical Research RCV000491913 SCV000268116 pathogenic Cold-induced sweating syndrome 1 2016-01-01 no assertion criteria provided research
OMIM RCV000239567 SCV000297953 pathogenic PERCHING syndrome 2020-01-09 no assertion criteria provided literature only
Istanbul Faculty of Medicine, Istanbul University RCV000239567 SCV004028462 pathogenic PERCHING syndrome 2022-01-10 no assertion criteria provided clinical testing

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