ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4253A>G (p.Lys1418Arg)

gnomAD frequency: 0.00006  dbSNP: rs530689577
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915617 SCV001060832 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000915617 SCV005312627 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000915617 SCV001797796 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727823 SCV001971519 benign not specified no assertion criteria provided clinical testing

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