ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1434A>G (p.Glu478=)

dbSNP: rs2149351968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370277 SCV001566747 likely benign Nemaline myopathy 2 2022-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809575 SCV005436513 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing NEB: BP4, BP7
Natera, Inc. RCV001370277 SCV002077821 uncertain significance Nemaline myopathy 2 2020-12-30 no assertion criteria provided clinical testing

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