ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1420G>C (p.Ala474Pro)

dbSNP: rs2040435581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252915 SCV001164058 uncertain significance Microcephaly no assertion criteria provided research

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