ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.4022A>G (p.Lys1341Arg)

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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 RCV003128297 SCV003804713 uncertain significance Snijders Blok-Campeau syndrome 2023-01-18 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1_SUP, PM2_SUP, PP2, PP3

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