ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20847G>A (p.Thr6949=)

gnomAD frequency: 0.00003  dbSNP: rs759425229
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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
Athena Diagnostics RCV000992424 SCV001144713 likely benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403768 SCV001605652 likely benign Nemaline myopathy 2 2024-01-09 criteria provided, single submitter clinical testing

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