ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn)

gnomAD frequency: 0.00332  dbSNP: rs149991825
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251550 SCV000303500 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000435963 SCV000511464 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000251550 SCV000517762 benign not specified 2016-03-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079245 SCV000752208 benign Glycogen storage disease IXa1 2025-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000435963 SCV005274397 benign not provided criteria provided, single submitter not provided

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