ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1674+30T>G

gnomAD frequency: 0.62430  dbSNP: rs6433569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248602 SCV000307252 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543090 SCV001761595 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543091 SCV001761596 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing

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