ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.24del (p.Arg9fs)

dbSNP: rs2151750195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788525 SCV001712176 pathogenic Ellis-van Creveld syndrome 2021-05-13 no assertion criteria provided clinical testing

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