ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3255+1del

dbSNP: rs1553538835
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672491 SCV000797598 likely pathogenic Nemaline myopathy 2 2018-02-01 criteria provided, single submitter clinical testing

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