ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) (rs794727136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724111 SCV000226192 pathogenic not provided 2014-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000190735 SCV000244176 pathogenic Inborn genetic diseases 2014-01-03 criteria provided, single submitter clinical testing
Counsyl RCV000174822 SCV000793904 likely pathogenic Nemaline myopathy 2 2017-09-12 criteria provided, single submitter clinical testing

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