ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.678C>T (p.His226=)

gnomAD frequency: 0.04916  dbSNP: rs28516461
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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 RCV000243562 SCV000314950 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094406 SCV000396892 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000243562 SCV000605212 benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000279382 SCV001000594 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001706379 SCV001847122 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094406 SCV004015462 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706379 SCV005295875 benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000243562 SCV001364643 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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