ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.522C>T (p.Gly174=)

gnomAD frequency: 0.00004  dbSNP: rs113843907
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422487 SCV001625038 likely benign Congenital myasthenic syndrome 5 2024-11-14 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252682 SCV002522996 uncertain significance See cases 2022-01-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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