ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.836C>T (p.Thr279Met)

gnomAD frequency: 0.00202  dbSNP: rs150570831
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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 RCV000923030 SCV001068487 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000923030 SCV001781598 likely benign not provided 2019-10-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000923030 SCV005228773 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003913106 SCV004736156 likely benign SLC34A3-related disorder 2019-10-30 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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