ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) (rs200963111)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246953 SCV000307312 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000526264 SCV000640718 likely benign Nemaline myopathy 2 2019-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000246953 SCV000718940 likely benign not specified 2017-05-03 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.
Natera, Inc. RCV000526264 SCV001456470 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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