ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148429 SCV003836209 uncertain significance Snijders Blok-Campeau syndrome 2023-04-24 criteria provided, single submitter clinical testing
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003148429 SCV005094567 pathogenic Snijders Blok-Campeau syndrome 2024-04-03 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003148429 SCV004242219 uncertain significance Snijders Blok-Campeau syndrome 2022-02-21 no assertion criteria provided clinical testing

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