ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2312G>A (p.Arg771Gln)

dbSNP: rs2153158663
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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 RCV002243590 SCV002512318 uncertain significance Liang-Wang syndrome 2021-05-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate

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