ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)

gnomAD frequency: 0.00007  dbSNP: rs776231831
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641335 SCV000762976 benign Nemaline myopathy 2 2024-10-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129957 SCV003812181 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641335 SCV001462188 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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