ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=)

gnomAD frequency: 0.00008  dbSNP: rs544199816
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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 RCV000500172 SCV000593186 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV002253496 SCV001097285 benign KBG syndrome 2023-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253496 SCV002524194 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing

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