ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23241+16C>T

gnomAD frequency: 0.00061  dbSNP: rs75221580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721454 SCV000534647 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Counsyl RCV000665029 SCV000789084 likely benign Nemaline myopathy 2 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665029 SCV002349108 benign Nemaline myopathy 2 2024-01-25 criteria provided, single submitter clinical testing

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