ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6006-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005030970 SCV005661277 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2024-01-16 criteria provided, single submitter clinical testing

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