ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.2464C>T (p.Gln822Ter)

dbSNP: rs2517771244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289107 SCV002581562 pathogenic CEBALID syndrome 2021-08-12 criteria provided, single submitter clinical testing

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