ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.516C>T (p.Asp172=)

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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 RCV003626294 SCV004467001 likely benign Leber congenital amaurosis 12 2023-10-06 criteria provided, single submitter clinical testing

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