ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17838G>A (p.Gln5946=)

gnomAD frequency: 0.00025  dbSNP: rs376199241
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000361431 SCV000337959 uncertain significance not provided 2015-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088998 SCV000763096 likely benign Nemaline myopathy 2 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088998 SCV002076978 likely benign Nemaline myopathy 2 2020-09-28 no assertion criteria provided clinical testing

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