ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.-229C>T

gnomAD frequency: 0.00001  dbSNP: rs151238022
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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 RCV000394513 SCV000354194 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298323 SCV000354195 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing

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