ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2161-136G>A

gnomAD frequency: 0.00967  dbSNP: rs139226142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587217 SCV001814352 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001587217 SCV005215148 likely benign not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV001194822 SCV001364626 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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