ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.817-2A>G

dbSNP: rs1553849894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671955 SCV000797002 likely pathogenic Ellis-van Creveld syndrome 2018-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027814 SCV005658265 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-05-14 criteria provided, single submitter clinical testing

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