ClinVar Miner

Submissions for variant NM_003394.4(WNT10B):c.338-1G>C

dbSNP: rs1163162816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology and Genetics, King Abdulaziz Medical City, Ministry of National Guard - Health Affairs RCV000656339 SCV000925757 likely pathogenic Split hand-foot malformation 6 2019-06-30 criteria provided, single submitter clinical testing More clinical presentation will be seen in accepted publication for Al Ghamdi et al. 2019.
Baylor Genetics RCV000656339 SCV001522970 pathogenic Split hand-foot malformation 6 2020-01-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000656339 SCV004805144 pathogenic Split hand-foot malformation 6 2024-03-17 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000656339 SCV000778302 likely pathogenic Split hand-foot malformation 6 2017-12-05 no assertion criteria provided clinical testing

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