ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.139G>A (p.Glu47Lys)

gnomAD frequency: 0.00088  dbSNP: rs77929806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534732 SCV000648295 likely benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV002509430 SCV000725948 likely benign not provided 2023-01-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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