ClinVar Miner

Submissions for variant NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) (rs142558269)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385948 SCV000453745 likely benign Netherton syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514631 SCV000610191 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000385948 SCV000631310 benign Netherton syndrome 2020-11-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000385948 SCV000743991 benign Netherton syndrome 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000385948 SCV000745451 likely benign Netherton syndrome 2017-11-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514631 SCV001154540 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000385948 SCV000734386 likely benign Netherton syndrome no assertion criteria provided clinical testing
Santos-Cortez Lab,University of Colorado School of Medicine RCV001260959 SCV001338937 uncertain significance Susceptibility to nonsyndromic otitis media 2020-04-18 no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514631 SCV001798807 likely benign not provided no assertion criteria provided clinical testing

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