ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5585-70C>T

gnomAD frequency: 0.65778  dbSNP: rs537831
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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 RCV001549148 SCV001769249 benign Severe early-childhood-onset retinal dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549149 SCV001769250 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549165 SCV001769267 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549166 SCV001769268 benign Age related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000085743 SCV001943989 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Retina International RCV000085743 SCV000117884 not provided not provided no assertion provided not provided

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