ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322720 SCV004027803 pathogenic ANK2-associated Neurodevelopmental Disorder 2023-05-09 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP
Institute of Human Genetics, University of Leipzig Medical Center RCV004763651 SCV005368493 pathogenic Cardiac arrhythmia, ankyrin-B-related 2023-11-27 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP

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