ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) (rs757726895)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000712380 SCV000331359 uncertain significance not provided 2016-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000485611 SCV000568028 likely benign not specified 2015-09-29 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.
Invitae RCV001082110 SCV000640581 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712380 SCV000842857 likely benign not provided 2017-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082110 SCV001458314 likely benign Nemaline myopathy 2 2020-01-06 no assertion criteria provided clinical testing

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