ClinVar Miner

Submissions for variant NM_138425.4(C12orf57):c.229+25_229+43del

dbSNP: rs199730337
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Total submissions: 3
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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 RCV000202923 SCV000258239 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing
Invitae RCV000555858 SCV000641931 benign Temtamy syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683567 SCV001896054 benign not provided 2021-04-07 criteria provided, single submitter clinical testing

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