ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2157C>T (p.Ala719=)

gnomAD frequency: 0.00005  dbSNP: rs777141609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095514 SCV002386458 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438941 SCV004147593 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing EVC2: BP4, BP7

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