ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20154C>T (p.Ser6718=)

gnomAD frequency: 0.00003  dbSNP: rs753253128
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 RCV001321671 SCV001512512 benign Nemaline myopathy 2 2024-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001321671 SCV002084097 uncertain significance Nemaline myopathy 2 2020-06-10 no assertion criteria provided clinical testing

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