ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)

gnomAD frequency: 0.00001  dbSNP: rs758761216
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 RCV001239197 SCV001412049 likely benign Nemaline myopathy 2 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001239197 SCV002084030 uncertain significance Nemaline myopathy 2 2021-01-18 no assertion criteria provided clinical testing

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