ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8328C>T (p.Ala2776=)

gnomAD frequency: 0.00002  dbSNP: rs373449008
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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) RCV000405591 SCV000339743 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078485 SCV001026313 likely benign Nemaline myopathy 2 2024-01-16 criteria provided, single submitter clinical testing

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