ClinVar Miner

Submissions for variant NM_020134.4(DPYSL5):c.692G>A (p.Arg231His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV004674041 SCV005093834 uncertain significance Ritscher-Schinzel syndrome 4 2024-06-25 criteria provided, single submitter research

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