ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=)

gnomAD frequency: 0.00048  dbSNP: rs369515171
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520486 SCV001729594 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-10-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000955096 SCV002034302 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000955096 SCV002038496 likely benign not provided no assertion criteria provided clinical testing

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