ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.866C>T (p.Thr289Met)

gnomAD frequency: 0.00025  dbSNP: rs62636263
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339959 SCV000352793 likely benign Leber congenital amaurosis 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001079750 SCV000650639 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000339959 SCV004178865 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453032 SCV004178866 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453031 SCV004178867 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Retina International RCV000086363 SCV000118509 not provided not provided no assertion provided not provided
Natera, Inc. RCV001275645 SCV001460936 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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