ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1755C>T (p.Pro585=)

gnomAD frequency: 0.00638  dbSNP: rs114016359
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246743 SCV000314919 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094395 SCV000396871 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000397240 SCV000558631 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001764234 SCV002008792 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000246743 SCV002068049 benign not specified 2021-03-05 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000246743 SCV001364715 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001764234 SCV002033974 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246743 SCV002035184 benign not specified no assertion criteria provided clinical testing

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