ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3918G>A (p.Lys1306=)

gnomAD frequency: 0.00008  dbSNP: rs368682145
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 RCV000557407 SCV000640789 likely benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437258 SCV004154169 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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