ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys)

dbSNP: rs1057524648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696795 SCV000536151 likely benign not provided 2020-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000531075 SCV000640538 uncertain significance Nemaline myopathy 2 2017-12-04 criteria provided, single submitter clinical testing

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