ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4352+54A>G

dbSNP: rs547806
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549175 SCV001769277 benign Severe early-childhood-onset retinal dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549176 SCV001769278 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549177 SCV001769279 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549178 SCV001769280 benign Age related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713032 SCV001943975 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713032 SCV005281532 benign not provided criteria provided, single submitter not provided

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