ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1314C>T (p.Gly438=)

gnomAD frequency: 0.00002  dbSNP: rs760683483
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
CeGaT Center for Human Genetics Tuebingen RCV002262356 SCV002544558 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SLC1A2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002262356 SCV003273875 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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