ClinVar Miner

Submissions for variant NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys)

gnomAD frequency: 0.00004  dbSNP: rs778823558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304583 SCV000407429 uncertain significance Cutis Laxa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV004777649 SCV005388774 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge

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