ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2304G>C (p.Val768=)

gnomAD frequency: 0.00030  dbSNP: rs139936564
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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) RCV000728033 SCV000855556 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000728033 SCV000972923 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082511 SCV001037850 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-23 criteria provided, single submitter clinical testing

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