ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.366G>A (p.Ser122=)

gnomAD frequency: 0.00139  dbSNP: rs201066611
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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 RCV001523092 SCV001732750 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523092 SCV005255259 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003966142 SCV004783791 likely benign CARMIL2-related disorder 2023-11-29 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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