ClinVar Miner

Submissions for variant NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) (rs786201030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000162328 SCV000212270 pathogenic Opitz GBBB syndrome, type II 2015-02-01 no assertion criteria provided literature only
Dept of Genetics,Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital RCV000754995 SCV000807704 pathogenic Hypertelorism, Teebi type 2018-06-01 no assertion criteria provided clinical testing

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