ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)

gnomAD frequency: 0.00410  dbSNP: rs62185645
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499483 SCV000596399 likely benign not specified 2017-06-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514378 SCV000610901 likely benign not provided 2017-07-19 criteria provided, single submitter clinical testing
Invitae RCV000986967 SCV000655086 benign Intellectual disability, autosomal recessive 42 2024-01-26 criteria provided, single submitter clinical testing
Mendelics RCV000986967 SCV001136130 likely benign Intellectual disability, autosomal recessive 42 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514378 SCV001747291 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PGAP1: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848872 SCV002105446 benign Hereditary spastic paraplegia 2021-12-13 criteria provided, single submitter clinical testing

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