ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser)

gnomAD frequency: 0.00003  dbSNP: rs775756899
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
Invitae RCV001065883 SCV001230871 benign Nemaline myopathy 2 2024-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001065883 SCV002084019 uncertain significance Nemaline myopathy 2 2020-07-22 no assertion criteria provided clinical testing

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