ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=)

gnomAD frequency: 0.00001  dbSNP: rs548270854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976952 SCV001124862 benign Charcot-Marie-Tooth disease axonal type 2P 2024-01-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174264 SCV001337394 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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