ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.306G>A (p.Arg102=)

gnomAD frequency: 0.00142  dbSNP: rs149143032
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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 RCV000912445 SCV001057553 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502746 SCV002808827 likely benign Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2021-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923182 SCV004743619 likely benign GCM2-related disorder 2020-02-05 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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