ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)

dbSNP: rs61752882
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000085200 SCV000117337 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250685 SCV001425555 likely pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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