ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.294+52T>G

gnomAD frequency: 0.85425  dbSNP: rs4664499
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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 RCV001543095 SCV001761601 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543096 SCV001761602 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709084 SCV005238935 benign not provided criteria provided, single submitter not provided

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