ClinVar Miner

Submissions for variant NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)

dbSNP: rs199673455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144887 SCV000191889 pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis 2014-10-01 no assertion criteria provided literature only
Genomics England Pilot Project, Genomics England RCV000144887 SCV001760307 likely pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis no assertion criteria provided clinical testing

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