ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.141A>G (p.Pro47=)

gnomAD frequency: 0.98746  dbSNP: rs4847281
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152712 SCV000202098 benign not specified 2013-09-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001510949 SCV000602330 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001510949 SCV001718114 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548794 SCV001768758 benign Severe early-childhood-onset retinal dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548795 SCV001768759 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548902 SCV001768904 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548903 SCV001768905 benign Age related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing

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