ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)

dbSNP: rs141715248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236841 SCV001409579 likely benign Charcot-Marie-Tooth disease type 4 2023-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV003482353 SCV004230064 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.

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