ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=)

gnomAD frequency: 0.00001  dbSNP: rs398124355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082002 SCV000113937 uncertain significance not provided 2013-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055216 SCV002366628 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-04-12 criteria provided, single submitter clinical testing

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