ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5763+35T>C

gnomAD frequency: 0.29408  dbSNP: rs12620077
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249880 SCV000307370 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542881 SCV001761278 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542882 SCV001761279 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709451 SCV005238912 benign not provided criteria provided, single submitter not provided

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