ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.5229C>A (p.Gly1743=)

gnomAD frequency: 0.00246  dbSNP: rs56243833
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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 RCV000897528 SCV001041676 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000897528 SCV004137818 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing DOCK6: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000897528 SCV005312616 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000897528 SCV001919552 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000897528 SCV001972841 likely benign not provided no assertion criteria provided clinical testing

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