ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)

gnomAD frequency: 0.00004  dbSNP: rs372749343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860681 SCV001000809 likely benign Charcot-Marie-Tooth disease type 4 2023-11-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172845 SCV001335918 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811509 SCV002048804 likely benign not provided 2021-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811509 SCV004185315 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SH3TC2: BP4, BS2

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