ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1211+7A>G

gnomAD frequency: 0.04557  dbSNP: rs17408685
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118325 SCV000152705 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400873 SCV000449171 benign Pontocerebellar hypoplasia type 2D 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000118325 SCV000519751 benign not specified 2016-05-18 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.
Invitae RCV001511858 SCV001719169 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000400873 SCV001762536 benign Pontocerebellar hypoplasia type 2D 2021-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000400873 SCV001456843 benign Pontocerebellar hypoplasia type 2D 2020-09-16 no assertion criteria provided clinical testing

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