ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7549A>G (p.Met2517Val)

gnomAD frequency: 0.00004  dbSNP: rs577856870
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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 RCV000547697 SCV000640860 likely benign Nemaline myopathy 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623428 SCV000741638 uncertain significance Inborn genetic diseases 2016-08-01 criteria provided, single submitter clinical testing

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