ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1675-8_1675-7del

dbSNP: rs749876066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518149 SCV000614164 uncertain significance not specified 2017-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000950507 SCV001096820 benign Nemaline myopathy 2 2024-11-13 criteria provided, single submitter clinical testing

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