ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.601+7A>G

gnomAD frequency: 0.00337  dbSNP: rs202074713
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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 RCV000872377 SCV001014177 benign KBG syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001549350 SCV001769484 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000872377 SCV002524213 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001549350 SCV004143530 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BS1

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