ClinVar Miner

Submissions for variant NM_001144061.2(COPB1):c.957+1G>T

dbSNP: rs1850695885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCL Queen Square Institute of Neurology, University College London RCV001290300 SCV001478271 likely pathogenic Cataract; Microcephaly; Intellectual disability, severe no assertion criteria provided clinical testing
OMIM RCV001354045 SCV001548561 pathogenic Baralle-Macken syndrome 2021-04-06 no assertion criteria provided literature only

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