ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) (rs398122991)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000210448 SCV000266544 pathogenic Alstrom syndrome criteria provided, single submitter research
Blueprint Genetics RCV001073566 SCV001239117 pathogenic Retinal dystrophy 2019-06-17 criteria provided, single submitter clinical testing
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University RCV000077806 SCV000109646 not provided not provided no assertion provided not provided

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