ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1233T>G (p.Ser411=)

dbSNP: rs760897070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898449 SCV001042657 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502637 SCV002804475 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509577 SCV002817350 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 rs760897070 in Wolfram's syndrome yet.

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