ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser)

gnomAD frequency: 0.00068  dbSNP: rs138395800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514227 SCV000610858 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV001086990 SCV001045447 likely benign Glycogen storage disease IXa1 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935356 SCV004751900 likely benign PHKA2-related condition 2020-03-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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