ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4992-7del

dbSNP: rs546612625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000390602 SCV000444969 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057881 SCV002456125 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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