ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.897T>C (p.Ser299=)

gnomAD frequency: 0.00003  dbSNP: rs767145624
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 RCV000982801 SCV001130819 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280511 SCV001467695 likely benign Leber congenital amaurosis 2020-10-06 no assertion criteria provided clinical testing

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