ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)

dbSNP: rs747830413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509037 SCV001715535 uncertain significance not provided 2019-04-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145681 SCV003830553 uncertain significance Developmental and epileptic encephalopathy, 23 2022-05-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003145681 SCV004178458 uncertain significance Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing
3billion RCV003145681 SCV005328624 likely benign Developmental and epileptic encephalopathy, 23 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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