ClinVar Miner

Submissions for variant NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)

dbSNP: rs551375300
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949711 SCV001095975 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818953 SCV002069789 likely benign not specified 2019-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489300 SCV002798854 likely benign Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2021-07-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002489300 SCV006057099 likely benign Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 2021-11-16 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003970705 SCV004786236 likely benign GCM2-related disorder 2022-01-18 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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