ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.551A>T (p.Glu184Val)

dbSNP: rs2124474566
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071015 SCV002320791 likely pathogenic Neuronal ceroid lipofuscinosis 1 2022-01-01 criteria provided, single submitter clinical testing

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