ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.618+1G>A

dbSNP: rs1554289078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000576878 SCV000678290 likely pathogenic Ulnar deviation of the wrist 2016-11-01 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824875 SCV000965782 likely pathogenic Distal arthrogryposis 2014-01-01 criteria provided, single submitter clinical testing
OMIM RCV000991229 SCV001142625 pathogenic PERCHING syndrome 2020-01-09 no assertion criteria provided literature only

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