ClinVar Miner

Submissions for variant NC_000012.12:g.43775405_43788500del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001310223 SCV001499834 pathogenic Immunodeficiency 67 2020-11-25 criteria provided, single submitter clinical testing

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