ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.635del (p.Gln212fs)

dbSNP: rs1586249038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856796 SCV000999359 pathogenic CHARGE syndrome criteria provided, single submitter clinical testing

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