ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.384A>G (p.Val128=)

gnomAD frequency: 0.00015  dbSNP: rs139881477
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 RCV001466720 SCV001670729 likely benign Leber congenital amaurosis 13 2022-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832127 SCV002091266 likely benign Leber congenital amaurosis 2020-03-11 no assertion criteria provided clinical testing

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