ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3239T>A (p.Leu1080His)

dbSNP: rs2151582175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785379 SCV002026406 likely pathogenic Snijders Blok-Campeau syndrome 2021-10-12 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS4_SUP, PS2_MOD, PM2_SUP, PP2, PP3

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