ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) (rs2275029)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152704 SCV000166753 benign not specified 2012-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152704 SCV000202087 benign not specified 2013-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152704 SCV000303772 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328383 SCV000359236 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382920 SCV000359237 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269749 SCV000359238 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324408 SCV000359239 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283556 SCV000602326 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096227 SCV001252424 benign ABCA4-Related Disorders 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152704 SCV001652924 benign not specified 2020-06-04 criteria provided, single submitter clinical testing The p.Pro1948Pro variant in ABCA4 is classified as benign because it does not alter an amino acid residue, is not located within the splice consensus site, and has been identified in 17.6% (49636/282614) of total chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Invitae RCV000509128 SCV001733397 benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001548892 SCV001768894 benign Stargardt disease 1 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001548893 SCV001768895 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001548894 SCV001768896 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001548895 SCV001768897 benign Age-related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509128 SCV000607279 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152704 SCV001742057 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000152704 SCV001955612 benign not specified no assertion criteria provided clinical testing

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