ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)

gnomAD frequency: 0.00009  dbSNP: rs749446584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951195 SCV001097569 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811547 SCV001473029 likely benign not provided 2019-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960626 SCV004785817 likely benign EVC2-related condition 2020-08-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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