ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)

gnomAD frequency: 0.00001  dbSNP: rs1300207920
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 RCV001279755 SCV001654789 likely benign Nemaline myopathy 2 2023-11-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279755 SCV001466876 uncertain significance Nemaline myopathy 2 2020-06-19 no assertion criteria provided clinical testing

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