ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)

gnomAD frequency: 0.00014  dbSNP: rs370810654
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823150 SCV000963998 benign Nemaline myopathy 2 2023-10-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132110 SCV003812169 uncertain significance not provided 2022-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000823150 SCV001461660 uncertain significance Nemaline myopathy 2 2020-03-11 no assertion criteria provided clinical testing

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