ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)

gnomAD frequency: 0.00001  dbSNP: rs773178453
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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 RCV001275965 SCV001702288 likely benign Nemaline myopathy 2 2022-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275965 SCV001461663 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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