ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.350T>C (p.Met117Thr)

gnomAD frequency: 0.00034  dbSNP: rs201772539
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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 RCV000933289 SCV001078984 benign Charcot-Marie-Tooth disease axonal type 2P 2022-04-12 criteria provided, single submitter clinical testing

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