ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4998G>C (p.Val1666=)

gnomAD frequency: 0.00013  dbSNP: rs370901183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610432 SCV000711313 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing p.Val1666Val in exon 39 of DOCK8: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 11/66580 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs370901183).
Invitae RCV003596054 SCV001063087 likely benign Autosomal recessive hyper-IgE syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000610432 SCV003839440 likely benign not specified 2022-12-13 no assertion criteria provided clinical testing

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