ClinVar Miner

Submissions for variant NM_001510.4(GRID2):c.1251T>G (p.Gly417=)

gnomAD frequency: 0.72183  dbSNP: rs1385405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001676236 SCV001895200 benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703049 SCV001933960 benign Autosomal recessive spinocerebellar ataxia 18 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001676236 SCV003336148 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676236 SCV005301349 benign not provided criteria provided, single submitter not provided

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