ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=)

gnomAD frequency: 0.00045  dbSNP: rs149391669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357246 SCV000456859 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001718758 SCV000535014 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Invitae RCV000357246 SCV000647116 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000357246 SCV002081939 benign Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-22 no assertion criteria provided clinical testing

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