ClinVar Miner

Submissions for variant NM_014672.4(PRORP):c.686C>T (p.Ala229Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003992811 SCV004810897 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing PRORP: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003933852 SCV004750168 benign PRORP-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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