ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) (rs370873040)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724373 SCV000225964 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000174632 SCV000725315 likely benign not specified 2017-12-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000394685 SCV000416828 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641468 SCV000763109 likely benign Nemaline myopathy 2 2017-12-08 criteria provided, single submitter clinical testing

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