ClinVar Miner

Submissions for variant NM_144508.5(KNL1):c.2268A>G (p.Ser756=)

gnomAD frequency: 0.00073  dbSNP: rs202012571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194707 SCV000246850 uncertain significance not specified 2014-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971623 SCV001119278 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000971623 SCV001811293 likely benign not provided 2021-06-10 criteria provided, single submitter clinical testing

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