ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.670C>T (p.Leu224=)

gnomAD frequency: 0.00124  dbSNP: rs138091159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891336 SCV001035148 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891336 SCV001335196 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing MECR: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000891336 SCV005257865 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975631 SCV004794334 likely benign MECR-related disorder 2019-04-29 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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