ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2239-16T>A

dbSNP: rs2487672040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV002280376 SCV002568437 pathogenic CHARGE syndrome 2022-02-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV002280376 SCV003836093 uncertain significance CHARGE syndrome 2022-01-19 criteria provided, single submitter clinical testing

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