ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.378C>G (p.Ile126Met)

gnomAD frequency: 0.00124  dbSNP: rs141175202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593065 SCV000709467 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091579 SCV001131981 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000983932 SCV001527704 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2018-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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