ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9576A>G (p.Leu3192=)

dbSNP: rs779042130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733043 SCV000861059 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535310 SCV002937862 likely benign Nemaline myopathy 2 2022-08-05 criteria provided, single submitter clinical testing

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