ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.53+52T>G

gnomAD frequency: 0.01269  dbSNP: rs192260189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224661 SCV000281054 likely benign not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000224661 SCV000977978 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000224661 SCV005222989 likely benign not provided criteria provided, single submitter not provided

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