ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.807C>G (p.Ala269=)

dbSNP: rs2140151030
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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 RCV001469908 SCV001673997 likely benign Leber congenital amaurosis 13 2022-08-04 criteria provided, single submitter clinical testing

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