ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5715-25A>C

gnomAD frequency: 0.20432  dbSNP: rs4147856
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242093 SCV000303767 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549140 SCV001769241 benign Severe early-childhood-onset retinal dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549141 SCV001769242 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549142 SCV001769243 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549143 SCV001769244 benign Age related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000085758 SCV001837598 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000085758 SCV005281516 benign not provided criteria provided, single submitter not provided
Retina International RCV000085758 SCV000117899 not provided not provided no assertion provided not provided

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