ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13230C>T (p.Ile4410=)

dbSNP: rs1488837816
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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 RCV001491135 SCV001695719 likely benign Nemaline myopathy 2 2023-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438832 SCV004154140 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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