ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.16995T>C (p.Asn5665=)

gnomAD frequency: 0.00002  dbSNP: rs761988373
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001273567 SCV001665188 likely benign Nemaline myopathy 2 2023-10-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273567 SCV001456725 likely benign Nemaline myopathy 2 2020-06-10 no assertion criteria provided clinical testing

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