ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5229C>T (p.Asn1743=)

gnomAD frequency: 0.00004  dbSNP: rs769446481
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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 RCV001402335 SCV001604180 likely benign Nemaline myopathy 2 2022-06-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000951950 SCV003814095 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001402335 SCV002077682 likely benign Nemaline myopathy 2 2021-02-04 no assertion criteria provided clinical testing

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