ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)

dbSNP: rs121434412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000007025 SCV004194083 likely pathogenic Rhizomelic chondrodysplasia punctata type 3 2023-06-17 criteria provided, single submitter clinical testing
OMIM RCV000007025 SCV000027221 pathogenic Rhizomelic chondrodysplasia punctata type 3 2001-01-15 no assertion criteria provided literature only

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