ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7957-152C>T

gnomAD frequency: 0.12498  dbSNP: rs28375835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001542873 SCV001761266 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542874 SCV001761267 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing

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