ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.*1990A>G

gnomAD frequency: 0.03609  dbSNP: rs113905467
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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 RCV000261483 SCV000483664 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705513 SCV005211865 likely benign not provided criteria provided, single submitter not provided

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