ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.712+8C>T

gnomAD frequency: 0.00020  dbSNP: rs369185545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865400 SCV001006355 likely benign not provided 2024-11-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816972 SCV002070260 likely benign not specified 2021-12-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509107 SCV002773865 benign Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs369185545 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002495248 SCV002799976 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-08 criteria provided, single submitter clinical testing

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