ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.525G>A (p.Ser175=)

gnomAD frequency: 0.00001  dbSNP: rs756315539
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239289 SCV001412149 likely benign Leber congenital amaurosis 13 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834082 SCV002091272 uncertain significance Leber congenital amaurosis 2020-03-10 no assertion criteria provided clinical testing

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