ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.297T>G (p.Leu99=)

gnomAD frequency: 0.00008  dbSNP: rs780711879
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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 RCV000878157 SCV001021017 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711357 SCV005256679 likely benign not provided criteria provided, single submitter not provided

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