ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.778C>A (p.Pro260Thr)

gnomAD frequency: 0.00055  dbSNP: rs143579306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827714 SCV000969373 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001796260 SCV001001158 likely benign Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 2023-12-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264025 SCV002543437 uncertain significance Autoinflammatory syndrome 2019-10-01 criteria provided, single submitter clinical testing

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