ClinVar Miner

Submissions for variant NM_006341.4(MAD2L2):c.582G>A (p.Ser194=)

gnomAD frequency: 0.00130  dbSNP: rs141637184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900508 SCV001044830 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912858 SCV004731299 likely benign MAD2L2-related disorder 2019-05-23 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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