ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr)

dbSNP: rs144704092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001491398 SCV001695991 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001773756 SCV002002900 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001801001 SCV002044614 likely benign Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001801002 SCV002044625 likely benign Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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