ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7900A>G (p.Lys2634Glu)

gnomAD frequency: 0.00001  dbSNP: rs998144294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756276 SCV001987656 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276878 SCV002565411 uncertain significance Ehlers-Danlos syndrome 2020-03-01 criteria provided, single submitter clinical testing

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