ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4594G>A (p.Ala1532Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002953378 SCV003273824 likely benign Nemaline myopathy 2 2023-03-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546752 SCV005041112 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing NEB: PM2

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