ClinVar Miner

Submissions for variant NM_145870.3(GSTZ1):c.259C>T (p.Arg87Ter)

gnomAD frequency: 0.00002  dbSNP: rs747265163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727690 SCV000855029 other not provided 2018-04-10 criteria provided, single submitter clinical testing
OMIM RCV000496080 SCV000584188 affects Maleylacetoacetate isomerase deficiency 2025-03-05 no assertion criteria provided literature only

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