ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.1022del (p.Leu341fs)

dbSNP: rs879255557
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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 RCV000491711 SCV000268118 pathogenic Cold-induced sweating syndrome 1 2016-01-01 no assertion criteria provided research
OMIM RCV000239468 SCV000297954 pathogenic PERCHING syndrome 2020-01-09 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000239468 SCV001167487 pathogenic PERCHING syndrome no assertion criteria provided research

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