ClinVar Miner

Submissions for variant NM_002655.3(PLAG1):c.1363del (p.Gln455fs)

dbSNP: rs1114167318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie RCV000491883 SCV000297813 pathogenic Silver-Russell syndrome 1 no assertion criteria provided research
OMIM RCV001174522 SCV001337662 pathogenic Silver-russell syndrome 4 2020-06-15 no assertion criteria provided literature only

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