ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23650-5T>G

gnomAD frequency: 0.00002  dbSNP: rs773618223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174648 SCV000225981 uncertain significance not provided 2015-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001307354 SCV001496764 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001307354 SCV002084006 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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