ClinVar Miner

Submissions for variant NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)

gnomAD frequency: 0.00001  dbSNP: rs777930884
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 RCV001275451 SCV001697232 likely benign Nemaline myopathy 2 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275451 SCV001460601 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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