ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=)

gnomAD frequency: 0.00079  dbSNP: rs146987351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878888 SCV001021875 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001535307 SCV001752311 benign not provided 2019-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001535307 SCV004145237 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing PIK3R2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001535307 SCV005314118 benign not provided criteria provided, single submitter not provided

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