ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17535+90A>G

gnomAD frequency: 0.24731  dbSNP: rs3732312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001542981 SCV001761419 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542982 SCV001761420 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709075 SCV005245953 benign not provided criteria provided, single submitter not provided

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