ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000845089 SCV000986939 not provided Schuurs-hoeijmakers syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Clinical Genetics, Erasmus University Medical Center RCV000984692 SCV000994809 uncertain significance Hirschsprung disease 2019-05-16 no assertion criteria provided clinical testing

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