ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)

gnomAD frequency: 0.00044  dbSNP: rs140648074
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415891 SCV000493565 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001242512 SCV001415605 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-12-28 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270085 SCV001448893 uncertain significance Pigmented paravenous retinochoroidal atrophy 2019-02-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563884 SCV001786931 uncertain significance Leber congenital amaurosis 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563885 SCV001786932 uncertain significance Retinitis pigmentosa 12 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521478 SCV003543404 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.2746C>T (p.L916F) alteration is located in exon 8 (coding exon 8) of the CRB1 gene. This alteration results from a C to T substitution at nucleotide position 2746, causing the leucine (L) at amino acid position 916 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828390 SCV002090184 uncertain significance Leber congenital amaurosis 2019-11-11 no assertion criteria provided clinical testing

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