ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1111C>G (p.Leu371Val)

dbSNP: rs943298404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253018 SCV002523084 uncertain significance See cases 2022-04-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4

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