ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=)

gnomAD frequency: 0.00014  dbSNP: rs140904308
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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) RCV000596482 SCV000703241 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088615 SCV001106347 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800821 SCV002045812 likely benign Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800822 SCV002045823 likely benign Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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