ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.2798_2799del (p.Arg933fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314068 SCV004013160 likely pathogenic Snijders Blok-Campeau syndrome 2023-04-04 criteria provided, single submitter clinical testing PVS1, PM2

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