ClinVar Miner

Submissions for variant NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser)

dbSNP: rs869312897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210434 SCV000266458 likely pathogenic GAPO syndrome 2014-09-01 criteria provided, single submitter research
OMIM RCV000210434 SCV000863534 pathogenic GAPO syndrome 2018-12-14 no assertion criteria provided literature only

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