ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.474C>T (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
Invitae RCV000898133 SCV001042323 likely benign Leber congenital amaurosis 13 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830958 SCV002091271 likely benign Leber congenital amaurosis 2020-01-27 no assertion criteria provided clinical testing

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