ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)

gnomAD frequency: 0.00116  dbSNP: rs6709752
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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) RCV000382057 SCV000332123 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083785 SCV000640795 benign Nemaline myopathy 2 2024-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999198 SCV005621681 benign not specified 2024-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083785 SCV001462198 likely benign Nemaline myopathy 2 2020-06-04 no assertion criteria provided clinical testing

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