ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)

gnomAD frequency: 0.00184  dbSNP: rs147438064
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513083 SCV000520356 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513083 SCV000609191 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ADAMTS2: BP4, BP7
Invitae RCV001079809 SCV000647105 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079809 SCV001318391 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278675 SCV002565250 likely benign Ehlers-Danlos syndrome 2021-03-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282141 SCV002572052 likely benign not specified 2022-08-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000513083 SCV001807613 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513083 SCV001975868 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001079809 SCV002084190 benign Ehlers-Danlos syndrome, dermatosparaxis type 2019-10-21 no assertion criteria provided clinical testing

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