ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser)

gnomAD frequency: 0.00154  dbSNP: rs199544459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000417729 SCV000510844 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000417729 SCV000863403 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Invitae RCV000417729 SCV001031873 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000417729 SCV001249326 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000417729 SCV001796895 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29165578)

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