ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) (rs138615800)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000195173 SCV000248936 benign not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV001084146 SCV000291098 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434846 SCV000511458 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001120029 SCV001278491 benign Fanconi anemia, complementation group P 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Leiden Open Variation Database RCV000195173 SCV001364644 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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