ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8889+1G>A (rs1553963960)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671973 SCV000797020 likely pathogenic Nemaline myopathy 2 2018-01-09 criteria provided, single submitter clinical testing
Mendelics RCV000671973 SCV001135980 likely pathogenic Nemaline myopathy 2 2019-05-28 criteria provided, single submitter clinical testing

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