ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)

gnomAD frequency: 0.00034  dbSNP: rs185496567
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544716 SCV000640854 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139774 SCV003810337 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403291 SCV004122915 uncertain significance not specified 2023-10-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000544716 SCV001458315 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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