ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)

dbSNP: rs1271498710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eye Genetics Research Group, Children's Medical Research Institute RCV000664187 SCV000599466 likely pathogenic Cone dystrophy no assertion criteria provided clinical testing
OMIM RCV001372429 SCV001569085 pathogenic Leber congenital amaurosis 9 2021-04-09 no assertion criteria provided literature only

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