ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.193C>A (p.Arg65=)

gnomAD frequency: 0.00001  dbSNP: rs17854602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647142 SCV000768929 likely benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2017-08-16 criteria provided, single submitter clinical testing

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