ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)

gnomAD frequency: 0.68304  dbSNP: rs4965613
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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 RCV000274222 SCV000389969 benign Weill-Marchesani 4 syndrome, recessive 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.
Genome-Nilou Lab RCV000274222 SCV001769353 benign Weill-Marchesani 4 syndrome, recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001660647 SCV001881593 benign not provided 2018-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001660647 SCV002398896 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660647 SCV005291408 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000274222 SCV000733423 benign Weill-Marchesani 4 syndrome, recessive no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579934 SCV001809105 benign not specified no assertion criteria provided clinical testing

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