ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.931C>T (p.Leu311=)

dbSNP: rs201458213
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 RCV000897085 SCV001041205 benign Leber congenital amaurosis 13 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275437 SCV001460587 likely benign Leber congenital amaurosis 2020-01-07 no assertion criteria provided clinical testing

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