ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.-63+13C>T

gnomAD frequency: 0.00077  dbSNP: rs185874005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444977 SCV000522720 benign not specified 2016-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514334 SCV000610838 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514334 SCV005877294 likely benign not provided 2024-10-11 criteria provided, single submitter clinical testing

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