ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)

gnomAD frequency: 0.00003  dbSNP: rs751935179
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641318 SCV000762959 likely benign Nemaline myopathy 2 2024-02-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133429 SCV003810197 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641318 SCV002079677 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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