ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)

gnomAD frequency: 0.00003  dbSNP: rs764674361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316633 SCV000342464 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660520 SCV000782621 uncertain significance Nemaline myopathy 2 2017-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660520 SCV003296785 likely benign Nemaline myopathy 2 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000316633 SCV005369400 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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