ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1554dup (p.Leu519fs)

dbSNP: rs1553876870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625588 SCV000746087 pathogenic Ellis-van Creveld syndrome 2017-09-18 no assertion criteria provided clinical testing

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