ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr)

dbSNP: rs1553862132
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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 RCV000539849 SCV000640576 uncertain significance Nemaline myopathy 2 2017-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000539849 SCV001456733 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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