ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.696C>T (p.Thr232=)

gnomAD frequency: 0.00009  dbSNP: rs772886919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596665 SCV001046508 likely benign Autosomal recessive hyper-IgE syndrome 2022-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705899 SCV005223000 likely benign not provided criteria provided, single submitter not provided

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