ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.694G>A (p.Gly232Ser)

gnomAD frequency: 0.00069  dbSNP: rs8190976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999015 SCV001155394 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000546 SCV001157476 uncertain significance not specified 2019-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000999015 SCV003267117 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936272 SCV004747609 likely benign GSR-related disorder 2019-06-27 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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