ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)

gnomAD frequency: 0.02657  dbSNP: rs115066356
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079544 SCV000111426 benign not specified 2013-09-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315898 SCV000464412 likely benign 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). 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.
Invitae RCV000975114 SCV001122991 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000975114 SCV001897397 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000315898 SCV001455296 benign Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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