ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.579C>T (p.Arg193=)

gnomAD frequency: 0.00037  dbSNP: rs142117351
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
Invitae RCV000878596 SCV001021523 likely benign Leber congenital amaurosis 13 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825779 SCV002091276 likely benign Leber congenital amaurosis 2020-01-13 no assertion criteria provided clinical testing

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