ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.453T>C (p.Asp151=)

gnomAD frequency: 0.00001  dbSNP: rs759482454
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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 RCV002094141 SCV002432418 likely benign Nemaline myopathy 2 2022-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434431 SCV004147024 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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