ClinVar Miner

Submissions for variant NM_005216.4(DDOST):c.20C>G (p.Ala7Gly)

dbSNP: rs1391192747
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709771 SCV000840089 not provided Congenital disorder of glycosylation type Ir no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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