ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)

gnomAD frequency: 0.00679  dbSNP: rs114472821
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231886 SCV000291076 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000248496 SCV000314931 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094332 SCV000396851 benign Fanconi anemia complementation group P 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 RCV001570692 SCV001795027 likely benign not provided 2019-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000248496 SCV002067971 benign not specified 2021-03-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001570692 SCV005215139 likely benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000248496 SCV001364653 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Center of Medical Genetics and Primary Health Care RCV001269373 SCV001448725 benign Malignant tumor of breast no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001570692 SCV001798565 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000248496 SCV001809019 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001570692 SCV002033958 likely benign not provided no assertion criteria provided clinical testing

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