ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6507G>A (p.Lys2169=)

dbSNP: rs267598923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667237 SCV000791657 likely benign Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667237 SCV001603507 likely benign Nemaline myopathy 2 2022-06-08 criteria provided, single submitter clinical testing

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