ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2751-4G>A

gnomAD frequency: 0.00324  dbSNP: rs112155474
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373946 SCV000456845 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 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 RCV000512723 SCV000528960 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512723 SCV000609190 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing ADAMTS2: BP4, BS2
Invitae RCV000373946 SCV000647125 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000512723 SCV000707341 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278588 SCV002565712 benign Ehlers-Danlos syndrome 2022-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000373946 SCV002081919 benign Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-21 no assertion criteria provided clinical testing

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