ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21522T>C (p.Asp7174=)

gnomAD frequency: 0.00029  dbSNP: rs185169373
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 RCV000877568 SCV001020316 likely benign Nemaline myopathy 2 2025-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000877568 SCV001460597 likely benign Nemaline myopathy 2 2020-04-30 no assertion criteria provided clinical testing

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