ClinVar Miner

Submissions for variant NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp) (rs782792216)

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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 RCV000680076 SCV000807516 uncertain significance Renpenning syndrome 1 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory maternally inherited in a 9-month-old male with global delays, microcephaly, pachygyria, contractures, central hypotonia, distal hypertonia

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