ClinVar Miner

Submissions for variant NM_058172.6(ANTXR2):c.720del (p.Ser240fs)

dbSNP: rs1732803804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261565 SCV001438831 likely pathogenic Hyaline fibromatosis syndrome criteria provided, single submitter clinical testing

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