ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu)

dbSNP: rs566738926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332616 SCV000479194 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2017-05-05 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090609 SCV002341863 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing

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