ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.1508G>A (p.Gly503Glu)

dbSNP: rs1049971949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528312 SCV001739837 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528312 SCV001807095 uncertain significance not provided no assertion criteria provided clinical testing

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