ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5898C>T (p.Thr1966=)

gnomAD frequency: 0.00001  dbSNP: rs140586593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495294 SCV001699972 likely benign KBG syndrome 2023-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001712910 SCV001943895 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820200 SCV002070757 likely benign not specified 2019-05-20 criteria provided, single submitter clinical testing

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