ClinVar Miner

Submissions for variant NM_000836.4(GRIN2D):c.2910G>A (p.Pro970=)

gnomAD frequency: 0.00416  dbSNP: rs771799381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954777 SCV001101436 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954777 SCV001151971 benign not provided 2024-07-01 criteria provided, single submitter clinical testing GRIN2D: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954777 SCV005209775 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935840 SCV004753669 benign GRIN2D-related disorder 2019-04-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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