ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.*134G>A

gnomAD frequency: 0.01542  dbSNP: rs76201551
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313943 SCV000359167 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370902 SCV000359168 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259815 SCV000359169 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298669 SCV000359170 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096132 SCV001252322 likely benign ABCA4-related disorder 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.
GeneDx RCV001683196 SCV001897455 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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