ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3340-15C>T

gnomAD frequency: 0.05325  dbSNP: rs28664100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251324 SCV000313493 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379381 SCV000385443 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000289276 SCV000385444 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001522399 SCV001731933 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001536964 SCV001753785 benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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