ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)

gnomAD frequency: 0.00302  dbSNP: rs149011965
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225974 SCV000291083 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094384 SCV000396839 likely benign Fanconi anemia complementation group P 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.
GeneDx RCV001573439 SCV001935036 benign not provided 2020-03-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22911665)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001573439 SCV002010102 benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001194841 SCV002071724 benign not specified 2020-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573439 SCV002585542 benign not provided 2023-05-01 criteria provided, single submitter clinical testing SLX4: BP4, BS1, BS2
Leiden Open Variation Database RCV001194841 SCV001364665 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573439 SCV001799332 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573439 SCV001971761 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001194841 SCV001977666 benign not specified no assertion criteria provided clinical testing

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