ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.126C>T (p.Leu42=)

gnomAD frequency: 0.00005  dbSNP: rs781009014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000295874 SCV000342154 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV001085651 SCV001087885 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-27 criteria provided, single submitter clinical testing

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