ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.*416G>C

gnomAD frequency: 0.15575  dbSNP: rs1411578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273177 SCV000464331 likely benign Carpenter syndrome 2016-06-14 criteria provided, single submitter clinical testing

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