ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln)

gnomAD frequency: 0.00011  dbSNP: rs374448993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513596 SCV000608886 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060176 SCV002433821 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-11-27 criteria provided, single submitter clinical testing

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