ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.451-16_451-15del

dbSNP: rs377541465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600452 SCV000729636 benign not specified 2018-01-08 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811113 SCV001473712 benign not provided 2023-02-10 criteria provided, single submitter clinical testing
Invitae RCV002066714 SCV002409769 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing

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