ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.675G>A (p.Pro225=) (rs138528093)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546259 SCV000640848 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000608066 SCV000720403 likely benign not specified 2018-03-09 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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