ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.204G>T (p.Val68=)

gnomAD frequency: 0.00001  dbSNP: rs2081519190
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993241 SCV002232904 likely benign Inherited glutathione synthetase deficiency 2023-02-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136368 SCV003817523 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing

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