ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)

dbSNP: rs141566950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174717 SCV000226073 benign not specified 2014-05-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307940 SCV000398358 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001371821 SCV001568403 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535603 SCV001749615 not provided Retinitis pigmentosa 45 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-21-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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