ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)

gnomAD frequency: 0.00001  dbSNP: rs771949848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709969 SCV000840333 not provided SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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