ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2113G>A (p.Ala705Thr)

dbSNP: rs749913190
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755516 SCV002005045 uncertain significance not provided 2020-08-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016)

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