ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4128+1G>A

dbSNP: rs2101036750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001840952 SCV002099955 pathogenic Severe early-childhood-onset retinal dystrophy 2021-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292669 SCV002585047 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing ABCA4: PVS1, PM2

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