ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2711-13G>T

gnomAD frequency: 0.00026  dbSNP: rs369991630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402339 SCV001604184 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-12-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701156 SCV001920293 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726547 SCV001965328 benign not specified no assertion criteria provided clinical testing

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