ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.765C>T (p.Asn255=)

gnomAD frequency: 0.00009  dbSNP: rs139129327
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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) RCV000728037 SCV000855560 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085162 SCV001059509 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000728037 SCV001791954 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing

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