ClinVar Miner

Submissions for variant NM_031296.3(RAB33B):c.*254A>G

gnomAD frequency: 0.04128  dbSNP: rs78192594
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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 RCV000396749 SCV000447505 likely benign Smith-McCort dysplasia 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001718742 SCV001948567 benign not provided 2021-06-20 criteria provided, single submitter clinical testing

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