ClinVar Miner

Submissions for variant NM_020719.3(PRR12):c.1606G>A (p.Gly536Ser)

gnomAD frequency: 0.00103  dbSNP: rs200340380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899065 SCV001043311 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000899065 SCV004011086 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PRR12: BS1
PreventionGenetics, part of Exact Sciences RCV003950527 SCV004757347 benign PRR12-related disorder 2022-01-18 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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