ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1711-20dup

dbSNP: rs35103377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518329 SCV001727002 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001563104 SCV001785988 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001518329 SCV002795624 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-23 criteria provided, single submitter clinical testing

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