ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.619+14G>A

gnomAD frequency: 0.00004  dbSNP: rs770398029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002393 SCV001160314 likely benign Charcot-Marie-Tooth disease axonal type 2P 2019-02-15 criteria provided, single submitter clinical testing
Invitae RCV001002393 SCV002382792 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-09-15 criteria provided, single submitter clinical testing

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