ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.753A>G (p.Ala251=) (rs12069435)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038786 SCV000062464 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala251Ala in Exon 07 of GPSM2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 10.3% (383/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs12069435)."
Illumina Clinical Services Laboratory,Illumina RCV000360553 SCV000347053 likely benign Chudley-McCullough syndrome 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.
GeneDx RCV000038786 SCV000521946 benign not specified 2016-03-14 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.
Athena Diagnostics Inc RCV000711836 SCV000842241 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000711836 SCV001108338 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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