ClinVar Miner

Submissions for variant NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn)

gnomAD frequency: 0.00066  dbSNP: rs140682366
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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 RCV000970778 SCV001118377 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000970778 SCV002049117 uncertain significance not provided 2020-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918442 SCV004737397 benign SLC36A2-related disorder 2019-05-24 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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