ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)

gnomAD frequency: 0.00001  dbSNP: rs886044724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408537 SCV000281813 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478825 SCV002798263 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-01-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816385 SCV005070702 uncertain significance Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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