ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)

dbSNP: rs1554286093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000585783 SCV000583464 uncertain significance PERCHING syndrome 2017-07-05 no assertion criteria provided research
OMIM RCV000585783 SCV001142627 pathogenic PERCHING syndrome 2020-01-09 no assertion criteria provided literature only

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