ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11033C>T (p.Pro3678Leu)

gnomAD frequency: 0.00003  dbSNP: rs752318455
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 RCV001246496 SCV001419854 likely benign Nemaline myopathy 2 2024-01-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132347 SCV003812277 uncertain significance not provided 2021-02-14 criteria provided, single submitter clinical testing

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