ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1755C>T (p.Phe585=)

gnomAD frequency: 0.00017  dbSNP: rs1801210
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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 RCV000891050 SCV001034839 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495392 SCV002800499 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003127541 SCV003801412 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 rs1801210 in Wolfram's syndrome yet.
Breakthrough Genomics, Breakthrough Genomics RCV000891050 SCV005257171 likely benign not provided criteria provided, single submitter not provided

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