ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1924+127G>A

gnomAD frequency: 0.00261  dbSNP: rs563725168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551416 SCV001771925 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194878 SCV001364720 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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