ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu)

gnomAD frequency: 0.01113  dbSNP: rs17216317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176844 SCV000228599 benign not specified 2015-05-08 criteria provided, single submitter clinical testing
Invitae RCV000956858 SCV001103649 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977443 SCV004795192 benign ABCC2-related condition 2019-11-26 criteria provided, single submitter 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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