ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter) (rs1405498595)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851330 SCV000993628 likely pathogenic Nemaline myopathy 2 2019-03-15 criteria provided, single submitter research

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