ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.903G>A (p.Ala301=)

gnomAD frequency: 0.03689  dbSNP: rs28730848
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530301 SCV000644914 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2025-02-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000530301 SCV000745288 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001692177 SCV001913465 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692177 SCV005314109 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700410 SCV001923467 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001700410 SCV002036305 benign not specified no assertion criteria provided clinical testing

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