ClinVar Miner

Submissions for variant NM_001243766.2(POMGNT1):c.-50-671_-50-663dup

dbSNP: rs966546165
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001681512 SCV001900459 benign not provided 2021-02-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22419172)
CeGaT Center for Human Genetics Tuebingen RCV001681512 SCV002585042 benign not provided 2024-11-01 criteria provided, single submitter clinical testing POMGNT1: BS1, BS2
OMIM RCV002295346 SCV000056703 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O 2012-09-01 no assertion criteria provided literature only

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