ClinVar Miner

Submissions for variant NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys)

dbSNP: rs2085295702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328852 SCV001520073 uncertain significance Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 2020-03-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001328852 SCV005871292 uncertain significance Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 2024-01-01 criteria provided, single submitter clinical testing PM2

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