ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22548G>C (p.Gln7516His)

gnomAD frequency: 0.00031  dbSNP: rs200776925
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 RCV001460394 SCV001664262 likely benign Nemaline myopathy 2 2023-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132499 SCV003810130 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing

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