ClinVar Miner

Submissions for variant NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs)

dbSNP: rs730882243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992204 SCV004809372 uncertain significance Autism, susceptibility to, 15 2024-04-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000162179 SCV000196465 likely pathogenic Congenital cerebellar hypoplasia; Seizure; Severe global developmental delay 2014-12-01 no assertion criteria provided research

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