ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)

dbSNP: rs916950454
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705687 SCV000834696 likely benign Nemaline myopathy 2 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000705687 SCV002079651 uncertain significance Nemaline myopathy 2 2021-02-19 no assertion criteria provided clinical testing

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