ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22696-1G>C (rs757157808)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665581 SCV000789727 likely pathogenic Nemaline myopathy 2 2017-02-10 criteria provided, single submitter clinical testing

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