ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.771G>A (p.Thr257=)

dbSNP: rs1035808739
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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 RCV000797654 SCV000937224 likely benign Leber congenital amaurosis 13 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277206 SCV001464105 uncertain significance Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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