ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)

gnomAD frequency: 0.00002  dbSNP: rs1289511955
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 RCV000538471 SCV000640699 likely benign Nemaline myopathy 2 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000538471 SCV001463287 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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