ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18891+1G>A (rs1443738549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667258 SCV000791680 likely pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731470 SCV000859291 likely pathogenic not provided 2018-01-25 criteria provided, single submitter clinical testing

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