ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4380C>T (p.Val1460=)

gnomAD frequency: 0.00002  dbSNP: rs762099703
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002111407 SCV002386616 likely benign Nemaline myopathy 2 2022-02-08 criteria provided, single submitter clinical testing

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