ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.16909-168C>T

gnomAD frequency: 0.26318  dbSNP: rs3771901
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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 RCV001542984 SCV001761423 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542985 SCV001761424 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing

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