ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2160+50C>T

gnomAD frequency: 0.06369  dbSNP: rs75762935
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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 RCV000244416 SCV000314924 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683126 SCV001900442 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316454 SCV004015465 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683126 SCV005295857 benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV000244416 SCV001364625 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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