ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.4517C>T (p.Ala1506Val)

gnomAD frequency: 0.00001  dbSNP: rs1462178615
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002262408 SCV002545084 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing SETD1B: PM2, PP2, BP5

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