ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=)

gnomAD frequency: 0.55134  dbSNP: rs2304155
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523342 SCV001733036 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001523342 SCV001842936 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000611392 SCV001875681 benign Adams-Oliver syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523342 SCV005312632 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611392 SCV000733837 benign Adams-Oliver syndrome 2 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701110 SCV001918400 benign not specified no assertion criteria provided clinical testing

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