ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)

dbSNP: rs774256040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785327 SCV002026318 likely pathogenic Pontocerebellar hypoplasia type 9 2017-03-02 criteria provided, single submitter clinical testing

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