ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3543A>G (p.Val1181=) (rs753242273)

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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, Partners HealthCare Personalized Medicine RCV000216010 SCV000270152 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing p.Val3543Val in exon 29 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 6/66738 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Illumina Clinical Services Laboratory,Illumina RCV000276122 SCV000480292 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000893485 SCV001037420 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing

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