ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter)

dbSNP: rs1168428802
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002077377 SCV002320808 likely pathogenic KBG syndrome 2022-01-01 criteria provided, single submitter clinical testing

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