ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.3526T>C (p.Leu1176=)

gnomAD frequency: 0.00235  dbSNP: rs200883815
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885518 SCV001028969 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885518 SCV004185158 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing DOCK6: BP4, BP7

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