ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.39G>A (p.Ser13=)

dbSNP: rs146672918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950543 SCV001096864 likely benign Leber congenital amaurosis 13 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704365 SCV005219506 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275427 SCV001460577 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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