ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.474C>G (p.Leu158=)

dbSNP: rs755916691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858574 SCV002146680 likely benign Leber congenital amaurosis 13 2021-06-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825846 SCV002091270 likely benign Leber congenital amaurosis 2021-02-09 no assertion criteria provided clinical testing

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