ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)

gnomAD frequency: 0.00027  dbSNP: rs372540293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596728 SCV000707753 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080825 SCV001018439 likely benign Nemaline myopathy 2 2024-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000596728 SCV003813587 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080825 SCV001454437 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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