ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1711-12_1711-10dup

dbSNP: rs35103377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002114497 SCV002447807 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738151 SCV004563436 likely benign not provided 2023-05-04 criteria provided, single submitter clinical testing

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