Submissions for variant NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)

dbSNP: rs188660364

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001113378	SCV001271144	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	RCV001113379	SCV001271145	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.
Invitae	RCV001488401	SCV001692916	likely benign	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2024-01-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001113378	SCV002044636	likely benign	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001113379	SCV002044647	likely benign	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing