ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)

dbSNP: rs200930670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239322 SCV001412191 benign Nemaline myopathy 2 2024-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132323 SCV003810134 uncertain significance not provided 2021-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001239322 SCV002077155 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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