ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1506-2A>G

dbSNP: rs1565627745
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009616 SCV000029834 pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency 1998-05-01 no assertion criteria provided literature only

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