ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.451-52G>A

gnomAD frequency: 0.27127  dbSNP: rs35705473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508044 SCV000603497 benign not specified 2018-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001683535 SCV001896128 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683535 SCV005304797 benign not provided criteria provided, single submitter not provided

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