ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.192A>T (p.Gly64=)

gnomAD frequency: 0.00001  dbSNP: rs773790295
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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 RCV000872761 SCV001014630 likely benign Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 2024-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092745 SCV001249391 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895332 SCV004715041 likely benign SLC5A7-related disorder 2022-09-12 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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