ClinVar Miner

Submissions for variant NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter)

dbSNP: rs1562137622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762426 SCV000892742 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786929 SCV000925832 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2X 2018-12-12 no assertion criteria provided clinical testing
OMIM RCV000786929 SCV002568003 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X 2022-08-25 no assertion criteria provided literature only

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