ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990938 SCV004808048 likely pathogenic Severe early-childhood-onset retinal dystrophy 2024-03-29 criteria provided, single submitter clinical testing

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