ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8469G>A (p.Val2823=)

dbSNP: rs1574818802
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 RCV000823646 SCV000964513 likely benign Nemaline myopathy 2 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000823646 SCV002079621 uncertain significance Nemaline myopathy 2 2020-09-22 no assertion criteria provided clinical testing

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