ClinVar Miner

Submissions for variant NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)

gnomAD frequency: 0.00094  dbSNP: rs147498129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728447 SCV000856025 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728447 SCV003284745 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000728447 SCV005192204 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928218 SCV004750432 likely benign SLC10A2-related disorder 2019-08-22 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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