ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)

gnomAD frequency: 0.00003  dbSNP: rs779983347
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 RCV000820570 SCV000961287 likely benign Nemaline myopathy 2 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000820570 SCV001459156 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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