ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.185_186delinsCT (p.Gly62Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies RCV005229542 SCV005870971 not provided Hereditary pancreatitis no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 02-14-2020 by Macrogen. GenomeConnect-Association for Creatine Deficiencies assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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