ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.1197_1200del (p.Phe400fs)

dbSNP: rs2128469724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002074474 SCV002320751 pathogenic Retinitis pigmentosa 42 2022-02-21 criteria provided, single submitter clinical testing

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