ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2343C>T (p.Gly781=)

gnomAD frequency: 0.00001  dbSNP: rs762082443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002485545 SCV002776148 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-01-03 criteria provided, single submitter clinical testing
Counsyl RCV000668203 SCV000792767 uncertain significance Ellis-van Creveld syndrome 2017-07-14 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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