ClinVar Miner

Submissions for variant NM_001273.5(CHD4):c.1895_1896del

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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 Goettingen RCV003325927 SCV004030264 likely pathogenic Sifrim-Hitz-Weiss syndrome 2023-08-09 no assertion criteria provided clinical testing

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