ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.631+1209TTGTT[5]

dbSNP: rs1247520830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001731422 SCV001983301 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537574 SCV004720747 likely benign GABRG2-related disorder 2019-03-21 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).
GeneDx RCV000187512 SCV000241106 benign not specified 2013-07-24 flagged submission clinical testing The variant is found in INFANT-EPI panel(s).

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