ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.327C>T (p.Pro109=)

dbSNP: rs774437667
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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 RCV001402166 SCV001604011 likely benign Leber congenital amaurosis 12 2023-08-16 criteria provided, single submitter clinical testing

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