ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)

gnomAD frequency: 0.00017  dbSNP: rs770023115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810320 SCV000950514 benign Nemaline myopathy 2 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV002285415 SCV002575959 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV002285415 SCV003810149 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000810320 SCV001454439 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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