ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24313-7C>T (rs113048349)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223141 SCV000269421 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 24313-7C>T in intron 171 of NEB: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (42/3182) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs113048349).
PreventionGenetics,PreventionGenetics RCV000223141 SCV000307322 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000223141 SCV000614174 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000527699 SCV000640738 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000223141 SCV000731042 benign not specified 2017-01-31 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. RCV000527699 SCV001459168 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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