ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5344-1G>C (rs1197561990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624651 SCV000742390 likely pathogenic Inborn genetic diseases 2017-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000674712 SCV000800099 likely pathogenic Nemaline myopathy 2 2018-05-22 criteria provided, single submitter clinical testing

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