ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.738G>A (p.Leu246=)

dbSNP: rs752438534
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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 RCV002176924 SCV002332636 likely benign Leber congenital amaurosis 13 2024-03-05 criteria provided, single submitter clinical testing

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