ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2520G>A (p.Thr840=)

gnomAD frequency: 0.00001  dbSNP: rs187406722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401058 SCV001602873 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278322 SCV001465322 likely benign Ellis-van Creveld syndrome 2020-09-28 no assertion criteria provided clinical testing

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