ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.165G>A (p.Thr55=)

gnomAD frequency: 0.00001  dbSNP: rs751674066
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001397083 SCV001598823 likely benign Leber congenital amaurosis 13 2023-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277608 SCV001464572 uncertain significance Leber congenital amaurosis 2020-08-14 no assertion criteria provided clinical testing

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