ClinVar Miner

Submissions for variant NM_022829.6(SLC13A3):c.292A>T (p.Ile98Phe)

gnomAD frequency: 0.00013  dbSNP: rs201443231
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000054635 SCV002406870 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054635 SCV000077325 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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