ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.433A>T (p.Asn145Tyr)

dbSNP: rs1182983579
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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 of Leipzig Medical Center RCV001706939 SCV001934534 likely pathogenic Retinitis pigmentosa 42 2020-09-21 criteria provided, single submitter clinical testing

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