ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9552A>G (p.Lys3184=)

dbSNP: rs2154073140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394340 SCV001596023 likely benign Nemaline myopathy 2 2022-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264294 SCV002544082 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NEB: PM2:Supporting, BP4, BP7

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