ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) (rs149028067)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724102 SCV000225589 uncertain significance not provided 2014-09-22 criteria provided, single submitter clinical testing
Invitae RCV001088102 SCV000648301 likely benign Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000174309 SCV000728674 likely benign not specified 2017-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000724102 SCV001144254 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing

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