ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=)

gnomAD frequency: 0.00005  dbSNP: rs1167279039
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 RCV000872605 SCV001014445 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872605 SCV001460869 likely benign Nemaline myopathy 2 2020-06-03 no assertion criteria provided clinical testing

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