ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.86-8C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002463985 SCV002758015 uncertain significance Vitelliform macular dystrophy 5 2022-10-24 criteria provided, single submitter clinical testing The detected variant has not yet been reported in the databases dbSNP151 and gnomAD or the literature. Bioinformatic prediction programmes for splice variants predict a loss of the canonical acceptor splice site c.86 of exon 2 (MaxENT -91.8%, SSF -100%). Based on current knowledge, the variant is to be classified as a "variant of unknown clinical significance" (ACMG criteria).

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