ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV003388952 SCV003927988 pathogenic KBG syndrome 2022-07-27 criteria provided, single submitter clinical testing ACMG/AMP: PVS1,PS2,PM2

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