ClinVar Miner

Submissions for variant NM_181776.3(SLC36A2):c.1126C>T (p.Arg376Cys)

gnomAD frequency: 0.00057  dbSNP: rs140044970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888512 SCV001032153 likely benign not provided 2022-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968088 SCV004786812 benign SLC36A2-related disorder 2020-06-08 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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