ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)

gnomAD frequency: 0.00012  dbSNP: rs374369335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665304 SCV001875092 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821943 SCV002071386 likely benign not specified 2021-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502000 SCV002813613 likely benign KBG syndrome 2021-12-17 criteria provided, single submitter clinical testing
Invitae RCV002502000 SCV004370639 benign KBG syndrome 2023-12-01 criteria provided, single submitter clinical testing

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