ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)

gnomAD frequency: 0.00006  dbSNP: rs769476760
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 RCV000541965 SCV000640593 likely benign Nemaline myopathy 2 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000541965 SCV002077002 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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