ClinVar Miner

Submissions for variant NM_002768.5(CHMP1A):c.51G>A (p.Lys17=)

gnomAD frequency: 0.00114  dbSNP: rs187184327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116705 SCV000150674 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000963149 SCV000526045 likely benign not provided 2021-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000963149 SCV001110286 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334084 SCV001526827 uncertain significance Pontocerebellar hypoplasia type 8 2018-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003952567 SCV004772247 likely benign CHMP1A-related disorder 2023-11-10 no assertion criteria provided 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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