ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)

dbSNP: rs2054403951
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330747 SCV001522535 uncertain significance Glycogen storage disease IXd 2020-05-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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