ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595080 SCV003491875 likely benign Nemaline myopathy 2 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434580 SCV004154155 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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