ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly)

dbSNP: rs1657904113
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Total submissions: 2
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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 RCV001262997 SCV001441066 likely pathogenic Neurodevelopmental disorder 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003493835 SCV004242443 likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1 2019-12-10 criteria provided, single submitter clinical testing

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