ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1269G>A (p.Thr423=)

gnomAD frequency: 0.00004  dbSNP: rs551881521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915161 SCV001060358 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800636 SCV005423638 likely benign not specified 2024-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271201 SCV001452190 uncertain significance Ellis-van Creveld syndrome 2020-01-24 no assertion criteria provided clinical testing

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