ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) (rs398122995)

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Total submissions: 2
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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 RCV000210460 SCV000266548 pathogenic Alstrom syndrome criteria provided, single submitter research
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University RCV000077846 SCV000109692 not provided not provided no assertion provided not provided

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