ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr)

gnomAD frequency: 0.00006  dbSNP: rs756135837
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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 RCV000813313 SCV000953671 benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132081 SCV003810241 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000813313 SCV001455510 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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