ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11754C>T (p.Thr3918=)

gnomAD frequency: 0.00002  dbSNP: rs368230090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595564 SCV000701946 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083737 SCV001046812 likely benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083737 SCV002077068 likely benign Nemaline myopathy 2 2020-11-24 no assertion criteria provided clinical testing

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