ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)

gnomAD frequency: 0.00003  dbSNP: rs780275367
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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 RCV001239201 SCV001412054 likely benign Nemaline myopathy 2 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV002509638 SCV002818962 uncertain significance not provided 2023-01-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001239201 SCV002077156 uncertain significance Nemaline myopathy 2 2020-02-21 no assertion criteria provided clinical testing

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