ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr)

dbSNP: rs1057521174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720114 SCV000521462 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000531441 SCV000640558 uncertain significance Nemaline myopathy 2 2017-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000531441 SCV001456744 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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