ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)

gnomAD frequency: 0.00002  dbSNP: rs771495234
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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 RCV001228563 SCV001400966 benign Nemaline myopathy 2 2023-08-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132308 SCV003812263 uncertain significance not provided 2020-06-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001228563 SCV002077697 uncertain significance Nemaline myopathy 2 2020-09-29 no assertion criteria provided clinical testing

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