ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)

gnomAD frequency: 0.24593  dbSNP: rs1042602
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000173114 SCV000224200 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173114 SCV000303892 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000341159 SCV000374871 benign Oculocutaneous albinism 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000055807 SCV001138402 benign Tyrosinase-negative oculocutaneous albinism 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000055807 SCV001369187 uncertain significance Tyrosinase-negative oculocutaneous albinism 2019-11-07 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PS3,PP3,PP4,BP6,BS1,BA1.
Invitae RCV000085955 SCV001716936 benign not provided 2021-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000055807 SCV001821902 benign Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
OMIM RCV000003977 SCV000024142 association Skin/hair/eye pigmentation, variation in, 3 2017-10-30 no assertion criteria provided literature only
GeneReviews RCV000055807 SCV000086777 non-pathogenic Tyrosinase-negative oculocutaneous albinism 2013-05-16 no assertion criteria provided curation Converted during submission to Benign.
Retina International RCV000085955 SCV000118098 not provided not provided no assertion provided not provided
Kasturba Medical College, Manipal, Manipal Academy of Higher Education RCV000341159 SCV000777829 uncertain significance Oculocutaneous albinism no assertion criteria provided research

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