ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3175T>C (p.Leu1059=)

dbSNP: rs1449746588
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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 RCV001488999 SCV001693532 likely benign Nemaline myopathy 2 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434276 SCV004147015 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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