ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.789G>A (p.Gln263=)

dbSNP: rs2140150932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100836 SCV002383166 likely benign Leber congenital amaurosis 13 2022-08-22 criteria provided, single submitter clinical testing

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