ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)

gnomAD frequency: 0.00003  dbSNP: rs139035514
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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 RCV001333274 SCV001525808 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2018-02-06 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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