ClinVar Miner

Submissions for variant NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)

gnomAD frequency: 0.00008  dbSNP: rs759637718
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 RCV000904641 SCV001049165 likely benign Nemaline myopathy 2 2024-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904641 SCV001460599 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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