ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1995T>C (p.Asn665=)

gnomAD frequency: 0.00001  dbSNP: rs774597710
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941627 SCV001087520 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000420 SCV001157228 likely benign not specified 2019-02-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454965 SCV004179991 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454966 SCV004179993 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454964 SCV004179994 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826993 SCV002090155 likely benign Leber congenital amaurosis 2020-09-26 no assertion criteria provided clinical testing

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