ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)

gnomAD frequency: 0.00073  dbSNP: rs199590641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598475 SCV000702801 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087237 SCV001098413 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800819 SCV002045911 likely benign Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800820 SCV002046022 likely benign Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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