ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1A>G (p.Met1Val) (rs28940881)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193173 SCV000249335 pathogenic Tyrosinase-negative oculocutaneous albinism 2015-04-17 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626675 SCV000747378 pathogenic Horizontal nystagmus; Hypopigmentation of the skin; Hypopigmentation of hair; Iris transillumination defect 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626676 SCV000747379 pathogenic Albinism; Nystagmus; Myopia (disease) 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626677 SCV000747380 pathogenic Foveal hypoplasia; Albinism; Abnormality of metabolism/homeostasis; Elevated hepatic transaminases; Slow decrease in visual acuity; Choroidal neovascularization 2017-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763286 SCV000893933 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 2018-10-31 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV000788078 SCV000927076 pathogenic Albinism 2018-11-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000193173 SCV001366304 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP4,PS1.
OMIM RCV000004011 SCV000024177 pathogenic Oculocutaneous albinism type 1B 1995-01-01 no assertion criteria provided literature only
Retina International RCV000085931 SCV000118074 not provided not provided no assertion provided not provided

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