ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=)

gnomAD frequency: 0.00006  dbSNP: rs375546482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480522 SCV001684841 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699552 SCV001917436 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726567 SCV001967320 likely benign not provided no assertion criteria provided clinical testing

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