ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)

gnomAD frequency: 0.00003  dbSNP: rs200952733
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 RCV000815891 SCV000956369 likely benign Nemaline myopathy 2 2023-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000815891 SCV001456728 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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