ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)

gnomAD frequency: 0.00010  dbSNP: rs62636284
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087352 SCV001096855 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000086337 SCV001856400 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453024 SCV004180129 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453025 SCV004180130 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453023 SCV004180131 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Retina International RCV000086337 SCV000118483 not provided not provided no assertion provided not provided
Natera, Inc. RCV001826779 SCV002090198 likely benign Leber congenital amaurosis 2021-05-19 no assertion criteria provided clinical testing

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