ClinVar Miner

Submissions for variant NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)

dbSNP: rs1933972061
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001248805 SCV001335597 likely pathogenic Pettigrew syndrome 2020-06-04 criteria provided, single submitter clinical testing de novo, paternity not confirmed

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