ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.*21472A>G

gnomAD frequency: 0.03198  dbSNP: rs59731646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268574 SCV000453860 likely benign Charcot-Marie-Tooth disease type 4C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000321379 SCV000453861 likely benign Susceptibility to mononeuropathy of the median nerve, mild 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001662312 SCV001872167 benign not provided 2021-05-22 criteria provided, single submitter clinical testing

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