ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)

dbSNP: rs1322100078
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology, Kindai University RCV001257320 SCV001238755 pathogenic Alstrom syndrome 2020-03-24 no assertion criteria provided case-control

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