ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1419C>T (p.Ser473=)

gnomAD frequency: 0.00024  dbSNP: rs150997327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697364 SCV000716796 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001697364 SCV002227821 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498906 SCV002810267 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-09-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126855 SCV003801367 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 rs150997327 in Wolfram's syndrome yet.
PreventionGenetics, part of Exact Sciences RCV004530761 SCV004715953 likely benign WFS1-related disorder 2023-11-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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