ClinVar Miner

Submissions for variant NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)

dbSNP: rs1555570093
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences RCV000590863 SCV000693880 likely pathogenic MPDU1-congenital disorder of glycosylation 2017-07-15 criteria provided, single submitter clinical testing

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