ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5712T>C (p.Pro1904=)

gnomAD frequency: 0.00034  dbSNP: rs35946547
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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 RCV000886767 SCV001030294 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001549702 SCV001769902 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000886767 SCV001461142 likely benign Nemaline myopathy 2 2020-05-02 no assertion criteria provided clinical testing

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