ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1570-2A>G (rs1553603958)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674550 SCV000799905 likely pathogenic Nemaline myopathy 2 2018-05-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729399 SCV000857056 pathogenic not provided 2017-09-29 criteria provided, single submitter clinical testing

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