ClinVar Miner

Submissions for variant NM_005491.5(MAMLD1):c.2220C>A (p.Gly740=)

gnomAD frequency: 0.00265  dbSNP: rs139460988
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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 RCV000955628 SCV001102344 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000955628 SCV005279684 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978286 SCV004787861 likely benign MAMLD1-related disorder 2019-03-20 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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