ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.878G>T (p.Arg293Met)

dbSNP: rs746131696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526827 SCV005039115 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277619 SCV001464583 uncertain significance Leber congenital amaurosis 2020-08-17 no assertion criteria provided clinical testing

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