ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2352A>G (p.Gln784=)

gnomAD frequency: 0.04295  dbSNP: rs13155521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557325 SCV000656395 benign DOCK2 deficiency 2024-01-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824826 SCV002074611 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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