ClinVar Miner

Submissions for variant NM_000484.4(APP):c.2124C>T (p.Gly708=) (rs148888161)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001082457 SCV000435515 likely benign Alzheimer disease 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc RCV000710591 SCV000840833 benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV001082457 SCV001015768 benign Alzheimer disease 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000019719 SCV000040017 benign APP POLYMORPHISM 1992-07-01 no assertion criteria provided literature only

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