ClinVar Miner

Submissions for variant NM_001354768.3(NRL):c.441G>A (p.Arg147=)

gnomAD frequency: 0.00421  dbSNP: rs201197984
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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 RCV000395648 SCV000386402 benign Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000954978 SCV001101648 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000954978 SCV001159184 benign not provided 2023-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954978 SCV002063121 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing NRL: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954978 SCV005218972 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699305 SCV001923727 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954978 SCV001965020 likely benign not provided no assertion criteria provided clinical testing

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