ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)

gnomAD frequency: 0.00273  dbSNP: rs139822086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898699 SCV001042922 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001161047 SCV001322890 uncertain significance Retinitis pigmentosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001272983 SCV001787040 uncertain significance Retinitis pigmentosa 25 2021-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000898699 SCV004157478 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EYS: BP4, BS2
Natera, Inc. RCV001272983 SCV001455499 likely benign Retinitis pigmentosa 25 2019-11-11 no assertion criteria provided clinical testing

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