ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.836_839del (p.Gln279fs)

dbSNP: rs864309668
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004566687 SCV005056209 pathogenic Aplastic anemia 2023-11-18 criteria provided, single submitter clinical testing
OMIM RCV000007356 SCV000027555 pathogenic Microcephaly, normal intelligence and immunodeficiency 1998-05-01 no assertion criteria provided literature only
GeneReviews RCV000007356 SCV000494631 not provided Microcephaly, normal intelligence and immunodeficiency no assertion provided literature only

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