ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8775T>C (p.Thr2925=)

gnomAD frequency: 0.00001  dbSNP: rs761257246
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890865 SCV001034640 likely benign Nemaline myopathy 2 2023-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310438 SCV001500234 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000890865 SCV002077190 likely benign Nemaline myopathy 2 2020-10-06 no assertion criteria provided clinical testing

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