ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp) (rs751316371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680075 SCV000807515 uncertain significance Muscle eye brain disease 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory with another variant (phase undetermined) in a newborn male with possible Walker-Warburg syndrome (hydrocephaly, kinked brainstem, cobblestone lissencephaly, multiple VSDs, possible anomalous pulmonary venous return), similarly affected prior pregnancy in mom (not tested)

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