ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.621T>C (p.Asn207=)

gnomAD frequency: 0.00002  dbSNP: rs747183193
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 RCV001454315 SCV001658038 likely benign Leber congenital amaurosis 13 2023-08-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832588 SCV002091280 likely benign Leber congenital amaurosis 2021-07-27 no assertion criteria provided clinical testing

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