ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.747G>A (p.Glu249=)

gnomAD frequency: 0.00009  dbSNP: rs752638064
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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 RCV000914468 SCV001059644 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000914468 SCV001754075 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509579 SCV002774899 likely 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 rs752638064 in Wolfram's syndrome yet.
Fulgent Genetics, Fulgent Genetics RCV002487989 SCV002794719 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-29 criteria provided, single submitter clinical testing

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