ClinVar Miner

Submissions for variant NM_005612.5(REST):c.367C>G (p.Pro123Ala)

gnomAD frequency: 0.00185  dbSNP: rs149829250
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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 RCV000884953 SCV001028365 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884953 SCV004152715 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing REST: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003920622 SCV004733982 benign REST-related disorder 2021-05-04 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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