ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=)

dbSNP: rs12907333
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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 RCV000353513 SCV000389951 benign Weill-Marchesani 4 syndrome, recessive 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 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 RCV000353513 SCV001769349 benign Weill-Marchesani 4 syndrome, recessive 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001723902 SCV001950581 benign not provided 2018-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001723902 SCV002406512 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723902 SCV005291386 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000353513 SCV000733421 benign Weill-Marchesani 4 syndrome, recessive no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579970 SCV001809235 benign not specified no assertion criteria provided clinical testing

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