ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1206T>C (p.Ser402=)

gnomAD frequency: 0.00001  dbSNP: rs373229699
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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 RCV000981270 SCV001129238 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489447 SCV002799003 likely benign Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-05-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454984 SCV004178909 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454985 SCV004178910 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454983 SCV004178911 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836051 SCV002090135 likely benign Leber congenital amaurosis 2020-10-28 no assertion criteria provided clinical testing

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