ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.645G>A (p.Glu215=)

gnomAD frequency: 0.00001  dbSNP: rs1297434866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001267879 SCV004668692 likely benign Leber congenital amaurosis 4 2023-03-01 criteria provided, single submitter clinical testing
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine RCV001267879 SCV001296385 uncertain significance Leber congenital amaurosis 4 no assertion criteria provided research

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