ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7459G>A (p.Asp2487Asn)

gnomAD frequency: 0.00006  dbSNP: rs764278567
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 RCV001909914 SCV002178666 likely benign Nemaline myopathy 2 2024-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693938 SCV005187950 uncertain significance not provided criteria provided, single submitter not provided

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