ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.552C>T (p.Pro184=)

dbSNP: rs1453486367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001426622 SCV001629281 likely benign Leber congenital amaurosis 13 2022-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275431 SCV001460581 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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