ClinVar Miner

Submissions for variant NM_001267052.2(UNC45B):c.808+39G>A

gnomAD frequency: 0.15718  dbSNP: rs11869662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595226 SCV001828546 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243312 SCV002514036 benign Cataract 43 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243313 SCV002514047 benign Myofibrillar myopathy 11 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001595226 SCV005246808 benign not provided criteria provided, single submitter not provided

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