ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.95+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1323512637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002034822 SCV002107275 likely pathogenic not provided 2022-01-04 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489904 SCV002783731 likely pathogenic ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 2021-07-14 criteria provided, single submitter clinical testing

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