ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp)

gnomAD frequency: 0.00169  dbSNP: rs140030984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489925 SCV000576854 benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Invitae RCV001088200 SCV000768921 likely benign Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000489925 SCV004010168 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ITGA7: BS1

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