ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.1059+9A>G

gnomAD frequency: 0.00001  dbSNP: rs781086486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335254 SCV001528358 uncertain significance X-linked cone-rod dystrophy 1 2018-11-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546723 SCV002949601 likely benign Primary ciliary dyskinesia 2021-12-26 criteria provided, single submitter clinical testing

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