ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3037C>G (p.Pro1013Ala)

gnomAD frequency: 0.00128  dbSNP: rs201402232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001425631 SCV001628264 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946113 SCV004762576 likely benign PCARE-related condition 2022-07-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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