ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) (rs1218073575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668980 SCV000793669 likely pathogenic Nemaline myopathy 2 2017-08-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000668980 SCV001251729 pathogenic Nemaline myopathy 2 2020-05-03 criteria provided, single submitter clinical testing

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