ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4611+70T>C

gnomAD frequency: 0.20373  dbSNP: rs58903550
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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 RCV001542993 SCV001761433 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542994 SCV001761434 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709077 SCV005238916 benign not provided criteria provided, single submitter not provided

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