ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133733 SCV003815703 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-12-05 criteria provided, single submitter clinical testing

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