ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2229C>T (p.Phe743=)

gnomAD frequency: 0.00005  dbSNP: rs754633797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403158 SCV001605019 likely benign Combined immunodeficiency due to DOCK8 deficiency 2020-10-26 criteria provided, single submitter clinical testing

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