ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4933G>A (p.Val1645Ile)

gnomAD frequency: 0.00645  dbSNP: rs34853494
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962690 SCV001109786 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000962690 SCV004030630 likely benign not provided 2022-07-29 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000962690 SCV005312618 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000962690 SCV001797388 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727830 SCV001975604 benign not specified no assertion criteria provided clinical testing

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