ClinVar Miner

Submissions for variant NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)

gnomAD frequency: 0.22973  dbSNP: rs10490924
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000001030 SCV000361195 benign Age related macular degeneration 8 2018-03-06 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.
GeneDx RCV000190307 SCV001899120 benign not provided 2019-10-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17903296, 30389424, 28173125, 16642439, 23274582, 24036949, 20664795, 21203342, 21031019, 22232482, 21825189, 19823576, 19898184, 21397333, 16174643, 20688737, 16936732, 20378180, 20042647, 20381870, 17884985, 20574013, 19933195, 19268887, 21236409, 22893087, 18164066, 23326481, 22509112, 23112567, 21106043)
OMIM RCV000001030 SCV000021180 risk factor Age related macular degeneration 8 2013-04-01 no assertion criteria provided literature only
Department of Ophthalmology and Visual Sciences Kyoto University RCV000190307 SCV000196530 not provided not provided no assertion provided not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000190307 SCV001552945 uncertain significance not provided no assertion criteria provided clinical testing

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