ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.558G>A (p.Leu186=)

gnomAD frequency: 0.00001  dbSNP: rs368921086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000921177 SCV001066571 likely benign SLC35A1-congenital disorder of glycosylation 2023-01-26 criteria provided, single submitter clinical testing

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