ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1038G>A (p.Pro346=)

dbSNP: rs143886476
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001776169 SCV001473466 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001776169 SCV002012703 likely benign not provided 2021-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001776169 SCV002378336 likely benign not provided 2024-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493510 SCV002797425 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509650 SCV002817339 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 rs143886476 in Wolfram's syndrome yet.

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