ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2561+12_2561+23dup

dbSNP: rs1199616057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674330 SCV000799652 uncertain significance Ellis-van Creveld syndrome 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066983 SCV002470143 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-08-21 criteria provided, single submitter clinical testing

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