ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu)

gnomAD frequency: 0.02464  dbSNP: rs34725281
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315506 SCV000385450 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000369993 SCV000385451 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000559934 SCV000641419 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756603 SCV000884469 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001683259 SCV001904675 benign not provided 2019-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683259 SCV005218400 likely benign not provided criteria provided, single submitter not provided

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