ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)

gnomAD frequency: 0.00006  dbSNP: rs542398089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000845090 SCV003253591 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-10-11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845090 SCV000986940 not provided Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. 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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