ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)

dbSNP: rs537134516
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172832 SCV001335904 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001586019 SCV001811394 likely benign not provided 2018-07-19 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732060 SCV001984561 likely benign not specified 2020-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003744733 SCV004507787 benign Charcot-Marie-Tooth disease type 4 2024-08-28 criteria provided, single submitter clinical testing

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