ClinVar Miner

Submissions for variant NM_001270.4(CHD1):c.643dup (p.Ser215fs)

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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 RCV003149117 SCV003834791 likely pathogenic Pilarowski-Bjornsson syndrome 2023-03-06 criteria provided, single submitter clinical testing

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