ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) (rs200478425)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000023859 SCV000807607 uncertain significance Severe congenital neutropenia 4, autosomal recessive 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with a pathogenic variant in a 9-year-old male with intellectual disability, short stature, atrial septal defect, undescended testicle, severe congenital neutropenia, diffuse ganglioneuromatosis. Heterozygotes are expected to be asymptomatic carriers.
Mendelics RCV000986189 SCV001135100 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000023859 SCV000045150 pathogenic Severe congenital neutropenia 4, autosomal recessive 2010-10-14 no assertion criteria provided literature only
GeneReviews RCV000023859 SCV000222646 pathogenic Severe congenital neutropenia 4, autosomal recessive 2015-01-18 no assertion criteria provided literature only

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