ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)

gnomAD frequency: 0.00034  dbSNP: rs183144150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001161168 SCV001323018 uncertain significance Retinitis pigmentosa 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 RCV001349026 SCV001543353 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890326 SCV004707511 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001828575 SCV002084381 uncertain significance Retinitis pigmentosa 25 2020-12-16 no assertion criteria provided clinical testing

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