ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.615+1G>T

dbSNP: rs886210482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724813 SCV001950349 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The c.615+1G>T variant in RP1 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.

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