ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)

gnomAD frequency: 0.00004  dbSNP: rs748121656
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 RCV001367200 SCV001563544 likely benign Nemaline myopathy 2 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001367200 SCV002077707 uncertain significance Nemaline myopathy 2 2021-04-19 no assertion criteria provided clinical testing

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