ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.885+1G>A

dbSNP: rs281865184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808320 SCV002058655 likely pathogenic Ocular albinism, type I 2022-01-03 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS).It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Retina International RCV000084951 SCV000117087 not provided not provided no assertion provided not provided

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