ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.106-10T>G

gnomAD frequency: 0.00593  dbSNP: rs73541957
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178027 SCV000230000 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000178027 SCV000238714 benign not specified 2014-09-11 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.
PreventionGenetics, part of Exact Sciences RCV000178027 SCV000301635 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286240 SCV000477616 benign Citrullinemia type I 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000434585 SCV000511412 likely benign not provided 2016-10-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001507234 SCV000630049 benign Citrullinemia 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000286240 SCV001471432 benign Citrullinemia type I 2020-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000286240 SCV001457304 benign Citrullinemia type I 2020-04-13 no assertion criteria provided clinical testing

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