ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)

gnomAD frequency: 0.00001  dbSNP: rs756398214
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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 RCV001243317 SCV001416466 likely benign Nemaline myopathy 2 2024-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132339 SCV003812137 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243317 SCV002079681 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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