ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2744-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776460 SCV005387901 likely pathogenic Retinitis pigmentosa 19 2024-05-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814111 SCV005072550 likely pathogenic Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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