ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)

gnomAD frequency: 0.00001  dbSNP: rs766548165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783773 SCV002023575 uncertain significance Familial renal glucosuria 2023-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001783773 SCV002790496 likely pathogenic Familial renal glucosuria 2021-11-29 criteria provided, single submitter clinical testing

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