ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)

gnomAD frequency: 0.00369  dbSNP: rs35810926
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641903 SCV000763553 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001113279 SCV001271041 uncertain significance Leber congenital amaurosis 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001114650 SCV001272552 uncertain significance Cone-rod dystrophy 13 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001113279 SCV002044548 likely benign Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001114650 SCV002044559 likely benign Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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