ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1773+8T>A

dbSNP: rs1771229712
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine, Peking University Third Hospital RCV001257367 SCV001433893 uncertain significance Heart, malformation of; Thickened nuchal skin fold; Cystic hygroma; Short long bone 2019-10-16 criteria provided, single submitter clinical testing

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