ClinVar Miner

Submissions for variant NM_005430.4(WNT1):c.264T>A (p.Ser88Arg)

gnomAD frequency: 0.00373  dbSNP: rs61758378
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202661 SCV000258023 likely benign not specified 2015-06-19 criteria provided, single submitter clinical testing
Invitae RCV000893654 SCV001037607 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893654 SCV001148722 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000893654 SCV001944078 benign not provided 2018-11-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24002087, 28173123)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277561 SCV002565064 likely benign Osteogenesis imperfecta 2021-12-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494517 SCV002799281 likely benign Osteogenesis imperfecta type 15; OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO 2022-03-02 criteria provided, single submitter clinical testing

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