ClinVar Miner

Submissions for variant NM_015330.5(SPECC1L):c.3247G>A (p.Gly1083Ser) (rs786201031)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000162329 SCV000212271 pathogenic Opitz GBBB syndrome, type II 2015-02-01 no assertion criteria provided literature only

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