ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=)

gnomAD frequency: 0.00004  dbSNP: rs146079606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865107 SCV001006019 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-10-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172641 SCV001335704 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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