ClinVar Miner

Submissions for variant NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)

dbSNP: rs793888524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Harry Perkins Institute Of Medical Research, University Of Western Australia RCV000172978 SCV000222095 pathogenic Arthrogryposis multiplex congenita 2014-12-01 criteria provided, single submitter clinical testing
OMIM RCV000186599 SCV000240206 pathogenic Lethal congenital contracture syndrome 9 2015-06-04 no assertion criteria provided literature only

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