ClinVar Miner

Submissions for variant NC_000008.11:g.89984913_89984916del

dbSNP: rs36226237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510924 SCV001718080 benign Microcephaly, normal intelligence and immunodeficiency 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001685373 SCV001902347 benign not provided 2019-02-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19523210)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001685373 SCV004564252 benign not provided 2023-11-28 criteria provided, single submitter clinical testing

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