ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser)

gnomAD frequency: 0.23682  dbSNP: rs1054480
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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 RCV000299782 SCV000456829 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 RCV000422671 SCV000520279 benign not specified 2016-10-07 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 RCV000299782 SCV001730534 benign Ehlers-Danlos syndrome, dermatosparaxis type 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000299782 SCV001762553 benign Ehlers-Danlos syndrome, dermatosparaxis type 2021-07-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000299782 SCV000734395 benign Ehlers-Danlos syndrome, dermatosparaxis type no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000299782 SCV000745659 benign Ehlers-Danlos syndrome, dermatosparaxis type 2014-02-04 no assertion criteria provided clinical testing
Natera, Inc. RCV000299782 SCV001457871 benign Ehlers-Danlos syndrome, dermatosparaxis type 2020-09-16 no assertion criteria provided clinical testing

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