ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1349C>T (p.Ala450Val)

gnomAD frequency: 0.00003  dbSNP: rs749008952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306837 SCV000341121 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518980 SCV003444720 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-12-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000306837 SCV003832287 uncertain significance not provided 2020-06-09 criteria provided, single submitter clinical testing

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