ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro)

dbSNP: rs781584370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272706 SCV002556750 likely pathogenic KBG syndrome 2022-02-23 criteria provided, single submitter clinical testing

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