ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.438C>T (p.Pro146=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002982928 SCV003295053 likely benign Leber congenital amaurosis 12 2022-09-17 criteria provided, single submitter clinical testing

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