ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.104C>T (p.Thr35Met)

gnomAD frequency: 0.00003  dbSNP: rs749153659
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
Invitae RCV001247258 SCV001420667 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247258 SCV001465666 uncertain significance Nemaline myopathy 2 2020-07-22 no assertion criteria provided clinical testing

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