ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) (rs77293072)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211883 SCV000166760 benign not specified 2011-07-18 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.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408548 SCV000281965 uncertain significance Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000211883 SCV000303783 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000211883 SCV000332063 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407170 SCV000359183 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315445 SCV000359184 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351693 SCV000359185 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390572 SCV000359186 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000085853 SCV001102456 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097883 SCV001254209 likely benign ABCA4-Related Disorders 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Retina International RCV000085853 SCV000117996 not provided not provided no assertion provided not provided

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