ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.903C>T (p.Ser301=) (rs113343213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385836 SCV000380259 uncertain significance Congenital Muscular Dystrophy, ITGA7-related 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532102 SCV000648346 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000605718 SCV000729946 benign not specified 2017-04-06 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.

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