ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=)

gnomAD frequency: 0.00003  dbSNP: rs376479835
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960428 SCV001107398 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280508 SCV001467692 likely benign Leber congenital amaurosis 2020-09-18 no assertion criteria provided clinical testing

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