ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.134G>A (p.Gly45Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985069 SCV004801377 uncertain significance Bryant-Li-Bhoj neurodevelopmental syndrome 1 2024-02-20 criteria provided, single submitter clinical testing

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