ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)

gnomAD frequency: 0.00114  dbSNP: rs143168081
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536894 SCV000653770 benign Immunodeficiency 14 2024-01-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000536894 SCV001474456 benign Immunodeficiency 14 2020-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702521 SCV002062392 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PIK3CD: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002506368 SCV002808247 likely benign Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 2022-01-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702521 SCV001932278 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702521 SCV001968629 likely benign not provided no assertion criteria provided clinical testing

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