ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1239+5G>C (rs757119713)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724356 SCV000225497 uncertain significance not provided 2014-11-12 criteria provided, single submitter clinical testing
GeneDx RCV000724356 SCV000573300 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing The c.1239+5G>C variant in the OCA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 12, and may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.1239+5G>C in this individual is unknown. The c.1239+5G>C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1239+5G>C as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000763954 SCV000894901 uncertain significance Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 2018-10-31 criteria provided, single submitter clinical testing

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