ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=)

dbSNP: rs542077760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714746 SCV001942338 benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821960 SCV002071145 likely benign not specified 2019-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253973 SCV002525183 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002253973 SCV004506494 benign KBG syndrome 2023-12-13 criteria provided, single submitter clinical testing

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