ClinVar Miner

Submissions for variant NM_138638.5(CFL2):c.495A>G (p.Pro165=)

gnomAD frequency: 0.00001  dbSNP: rs201619073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919976 SCV001065334 likely benign Nemaline myopathy 7 2022-02-23 criteria provided, single submitter clinical testing

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