ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) (rs267606854)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001897 SCV000022053 pathogenic Chudley-McCullough syndrome 2012-06-08 no assertion criteria provided literature only
Hereditary Research Laboratory, Bethlehem University RCV000454206 SCV000538094 pathogenic Deafness, autosomal recessive 2016-06-04 no assertion criteria provided research Severe to Profound

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