ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2013+23G>A

gnomAD frequency: 0.06373  dbSNP: rs112226642
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252842 SCV000314923 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610738 SCV001836646 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316453 SCV004015469 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610738 SCV005295858 benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000252842 SCV001364621 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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