ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1803G>A (p.Ser601=)

gnomAD frequency: 0.00649  dbSNP: rs144892556
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249678 SCV000314920 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094344 SCV000396870 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000346138 SCV000558656 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001753729 SCV002006726 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249678 SCV002068026 benign not specified 2021-03-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094344 SCV004015482 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001753729 SCV005215158 likely benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000249678 SCV001364716 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 RCV001753729 SCV002034053 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000249678 SCV002035325 benign not specified no assertion criteria provided clinical testing

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