ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=)

dbSNP: rs782682520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487604 SCV000575649 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001443194 SCV001646163 likely benign Glycogen storage disease IXd 2021-11-23 criteria provided, single submitter clinical testing

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