ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=)

gnomAD frequency: 0.00001  dbSNP: rs762785076
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869475 SCV001010904 likely benign Charcot-Marie-Tooth disease axonal type 2P 2023-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432819 SCV004160727 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing LRSAM1: BP4, BP7

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