ClinVar Miner

Submissions for variant NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)

gnomAD frequency: 0.00006  dbSNP: rs781948153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513019 SCV000609388 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SLC35A2: BS2
Athena Diagnostics RCV000513019 SCV001475511 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511787 SCV001719084 benign SLC35A2-congenital disorder of glycosylation 2023-08-04 criteria provided, single submitter clinical testing

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