ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1470+2dup

gnomAD frequency: 0.00001  dbSNP: rs1477702016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670089 SCV000794905 uncertain significance Nemaline myopathy 2 2017-10-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465496 SCV004200248 likely pathogenic Arthrogryposis multiplex congenita 6 2023-06-16 criteria provided, single submitter clinical testing

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