ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn)

gnomAD frequency: 0.00001  dbSNP: rs752928207
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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 RCV000524956 SCV000640609 benign Nemaline myopathy 2 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV002508224 SCV002817902 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000524956 SCV002076973 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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